### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PLP1) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "PLP1" "proteolipid protein 1" "X" "q22" "no" "NG_008863.2" "UD_132118942535" "" "https://www.LOVD.nl/PLP1" "" "1" "9086" "5354" "300401" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/PLP1_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2017-09-04 16:13:53" "00006" "2025-06-07 12:17:28" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000452" "PLP1" "transcript variant 1" "002" "NM_000533.3" "" "NP_000524.3" "" "" "" "-170" "2856" "834" "103031754" "103047548" "00000" "2012-09-13 12:16:54" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02259" "PMD;HLD1" "Pelizaeus-Merzbacher disease (PMD, hypomyelinative leukodystrophy (HLD-1))" "XLR" "312080" "" "X-linked recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02264" "SPG2" "paraplegia, spastic, type 2 (SPG-2)" "XLR" "312920" "" "X-linked recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "PLP1" "00139" "PLP1" "02259" "PLP1" "02264" ## Individuals ## Do not remove or alter this header ## ## Count = 88 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00000034" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00117956" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377470-Pat?" "00117957" "" "" "" "61" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377471-Pat?" "00117958" "" "" "" "3" "" "01993" "{PMID:Taube 2014:24890387}" "2-generation family, 3 affected males, 3 unaffected heterozygous carrier females" "M" "no" "United States" "" "0" "" "" "" "" "00117959" "" "" "" "2" "" "01993" "{PMID:Taube 2014:24890387}" "4-generation family, 2 affecteds, 2 unaffected heterozygous female carriers" "M" "" "Philippines" "" "0" "" "" "" "" "00117960" "" "" "" "7" "" "01993" "{PMID:Taube 2014:24890387}" "5-generation family, 7 affected males" "M" "no" "Czech Republic" "" "0" "" "" "" "" "00180274" "" "" "" "1" "" "02560" "{PMID:Martínez-Montero 2013:23347225}, {DOI:Martínez-Montero 2013:10.1111/cge.12103}" "" "M" "-" "Spain" ">20y" "0" "no" "no" "white" "23347225-PatPM-43" "00180300" "" "" "" "1" "" "00006" "{PMID:Strautnieks 1992:1384324}" "3-generation family, 2 affecteds (2M), 2 healthy carrier females" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "01384324-Fam1" "00180301" "" "" "" "2" "" "00006" "{PMID:Strautnieks 1992:1384324}" "2-generation family, affected brothers, healthy carrier mother" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "01384324-Fam2" "00180302" "" "" "" "1" "" "02560" "{PMID:Martínez-Montero 2013:23347225}, {DOI:Martínez-Montero 2013:10.1111/cge.12103}" "carrier mother" "M" "" "Spain" "3y" "0" "" "" "" "23347225-PatPM-4" "00180303" "" "" "" "1" "" "02560" "{PMID:Martínez-Montero 2013:23347225}, {DOI:Martínez-Montero 2013:10.1111/cge.12103}" "carrier mother" "M" "" "Spain" "" "0" "" "" "" "23347225-PatPM-25" "00180304" "" "" "" "1" "" "02560" "{PMID:Martínez-Montero 2013:23347225}, {DOI:Martínez-Montero 2013:10.1111/cge.12103}" "carrier mother" "M" "" "Spain" "" "0" "" "" "" "23347225-PatPM-53" "00180305" "" "" "" "1" "" "02560" "{PMID:Martínez-Montero 2013:23347225}, {DOI:Martínez-Montero 2013:10.1111/cge.12103}" "non-carrier mother" "M" "" "Spain" "" "0" "" "" "" "23347225-PatPM-57" "00180306" "" "" "" "1" "" "02560" "{PMID:Martínez-Montero 2013:23347225}, {DOI:Martínez-Montero 2013:10.1111/cge.12103}" "carrier mother" "M" "" "Spain" "" "0" "" "" "" "23347225-PatPM-67" "00180307" "" "" "" "1" "" "02560" "{PMID:Martínez-Montero 2013:23347225}, {DOI:Martínez-Montero 2013:10.1111/cge.12103}" "carrier mother" "M" "" "Spain" "" "0" "" "" "" "23347225-PatPM-68" "00180308" "" "" "" "1" "" "02560" "{PMID:Martínez-Montero 2013:23347225}, {DOI:Martínez-Montero 2013:10.1111/cge.12103}" "carrier mother" "M" "" "Spain" "" "0" "" "" "" "23347225-PatPM-101" "00180309" "" "" "" "1" "" "02560" "{PMID:Martínez-Montero 2013:23347225}, {DOI:Martínez-Montero 2013:10.1111/cge.12103}" "carrier mother" "M" "" "Spain" "" "0" "" "" "" "23347225-PatPM-154" "00180310" "" "" "" "1" "" "02560" "{PMID:Martínez-Montero 2013:23347225}, {DOI:Martínez-Montero 2013:10.1111/cge.12103}" "carrier mother" "M" "" "Spain" "" "0" "" "" "" "23347225-PatPM-28" "00180311" "" "" "" "1" "" "02560" "{PMID:Martínez-Montero 2013:23347225}, {DOI:Martínez-Montero 2013:10.1111/cge.12103}" "non-carrier mother" "M" "" "Spain" "" "0" "" "" "" "23347225-PatPM-39" "00180312" "" "" "" "1" "" "02560" "{PMID:Martínez-Montero 2013:23347225}, {DOI:Martínez-Montero 2013:10.1111/cge.12103}" "carrier mother" "M" "" "Spain" "" "0" "" "" "" "23347225-PatPM-71" "00180313" "" "" "" "1" "" "02560" "{PMID:Martínez-Montero 2013:23347225}, {DOI:Martínez-Montero 2013:10.1111/cge.12103}" "mother not tested" "M" "" "Spain" "12y" "0" "" "" "" "23347225-PatPM-83" "00180314" "" "" "" "1" "" "02560" "{PMID:Martínez-Montero 2013:23347225}, {DOI:Martínez-Montero 2013:10.1111/cge.12103}" "carrier mother" "M" "" "Spain" "" "0" "" "" "" "23347225-PatPM-103" "00180315" "" "" "" "1" "" "02560" "{PMID:Martínez-Montero 2013:23347225}, {DOI:Martínez-Montero 2013:10.1111/cge.12103}" "carrier mother" "M" "" "Spain" "" "0" "" "" "" "23347225-PatPM-106" "00180316" "" "" "" "1" "" "02560" "{PMID:Martínez-Montero 2013:23347225}, {DOI:Martínez-Montero 2013:10.1111/cge.12103}" "mother not tested" "M" "" "Spain" "" "0" "" "" "" "23347225-PatPM-121" "00180317" "" "" "" "1" "" "02560" "{PMID:Martínez-Montero 2013:23347225}, {DOI:Martínez-Montero 2013:10.1111/cge.12103}" "carrier mother" "M" "" "Spain" "" "0" "" "" "" "23347225-PatPM-133" "00180318" "" "" "" "1" "" "02560" "{PMID:Martínez-Montero 2013:23347225}, {DOI:Martínez-Montero 2013:10.1111/cge.12103}" "carrier mother" "M" "" "Spain" "" "0" "" "" "" "23347225-PatPM-159" "00180319" "" "" "" "1" "" "02560" "{PMID:Martínez-Montero 2013:23347225}, {DOI:Martínez-Montero 2013:10.1111/cge.12103}" "mother not tested" "M" "" "Greece" "13y" "0" "" "" "" "23347225-PatPM-81" "00180320" "" "" "" "1" "" "02560" "{PMID:Martínez-Montero 2013:23347225}, {DOI:Martínez-Montero 2013:10.1111/cge.12103}" "carrier mother" "M" "" "Spain" "" "0" "" "" "" "23347225-PatPM-119" "00180321" "" "" "" "1" "" "00006" "{PMID:Hübner 2005:15712223}" "" "M" "" "Germany" "" "0" "" "" "" "15712223-Pat?" "00180322" "" "" "" "1" "" "00006" "{PMID:Hübner 2005:15712223}" "" "M" "" "Germany" "" "0" "" "" "" "15712224-Pat?" "00180323" "" "" "" "1" "" "00006" "{PMID:Hübner 2005:15712223}" "" "M" "" "Germany" "" "0" "" "" "" "15712225-Pat?" "00180324" "" "" "" "1" "" "00006" "{PMID:Hübner 2005:15712223}" "" "M" "" "Germany" "" "0" "" "" "" "15712226-Pat?" "00180325" "" "" "" "1" "" "00006" "{PMID:Hübner 2005:15712223}" "" "M" "" "Germany" "" "0" "" "" "" "15712227-Pat?" "00180326" "" "" "" "1" "" "00006" "{PMID:Hübner 2005:15712223}" "" "M" "" "Germany" "" "0" "" "" "" "15712228-Pat?" "00180327" "" "" "" "1" "" "00006" "{PMID:Hübner 2005:15712223}" "" "M" "" "Germany" "" "0" "" "" "" "15712229-Pat?" "00180328" "" "" "" "1" "" "00006" "{PMID:Hübner 2005:15712223}" "" "M" "" "Germany" "" "0" "" "" "" "15712230-Pat?" "00180329" "" "" "" "1" "" "00006" "{PMID:Hübner 2005:15712223}" "" "M" "" "Germany" "" "0" "" "" "" "15712231-Pat?" "00180330" "" "" "" "1" "" "00006" "{PMID:Hübner 2005:15712223}" "" "M" "" "Germany" "" "0" "" "" "" "15712232-Pat?" "00180331" "" "" "" "1" "" "00006" "{PMID:Hübner 2005:15712223}" "" "M" "" "Germany" "" "0" "" "" "" "15712233-Pat?" "00180332" "" "" "" "1" "" "00006" "{PMID:Hübner 2005:15712223}" "" "M" "" "Germany" "" "0" "" "" "" "15712234-Pat?" "00180333" "" "" "" "1" "" "00006" "{PMID:Hübner 2005:15712223}" "" "M" "" "Germany" "" "0" "" "" "" "15712235-Pat?" "00180334" "" "" "" "1" "" "00006" "{PMID:Hübner 2005:15712223}" "" "M" "" "Germany" "" "0" "" "" "" "15712236-Pat?" "00180335" "" "" "" "1" "" "00006" "{PMID:Hübner 2005:15712223}" "" "M" "" "Germany" "" "0" "" "" "" "15712237-Pat?" "00180336" "" "" "" "1" "" "00006" "{PMID:Hübner 2005:15712223}" "" "M" "" "Germany" "" "0" "" "" "" "15712238-Pat?" "00180337" "" "" "" "1" "" "00006" "{PMID:Hübner 2005:15712223}" "" "M" "" "Germany" "" "0" "" "" "" "15712239-Pat?" "00180338" "" "" "" "1" "" "00006" "{PMID:Hübner 2005:15712223}" "" "M" "" "Germany" "" "0" "" "" "" "15712240-Pat?" "00180339" "" "" "" "1" "" "00006" "{PMID:Hübner 2005:15712223}" "" "M" "" "Germany" "" "0" "" "" "" "15712241-Pat?" "00180340" "" "" "" "1" "" "00006" "{PMID:Hübner 2005:15712223}" "" "M" "" "Germany" "" "0" "" "" "" "15712242-Pat?" "00180341" "" "" "" "1" "" "00006" "{PMID:Hübner 2005:15712223}" "" "M" "" "Germany" "" "0" "" "" "" "15712243-Pat?" "00180342" "" "" "" "1" "" "00006" "{PMID:Hübner 2005:15712223}" "" "M" "" "Germany" "" "0" "" "" "" "15712244-Pat?" "00180343" "" "" "" "1" "" "00006" "{PMID:Hübner 2005:15712223}" "" "M" "" "Germany" "" "0" "" "" "" "15712245-Pat?" "00180345" "" "" "" "1" "" "00006" "{PMID:Hübner 2005:15712223}" "" "M" "" "Germany" "" "0" "" "" "" "15712223-Pat?" "00180346" "" "" "" "1" "" "00006" "{PMID:Hübner 2005:15712223}" "" "M" "" "Germany" "" "0" "" "" "" "15712224-Pat?" "00180347" "" "" "" "1" "" "00006" "{PMID:Hübner 2005:15712223}" "" "M" "" "Germany" "" "0" "" "" "" "15712225-Pat?" "00180348" "" "" "" "1" "" "00006" "{PMID:Hübner 2005:15712223}" "" "M" "" "Germany" "" "0" "" "" "" "15712226-Pat?" "00180349" "" "" "" "1" "" "00006" "{PMID:Hübner 2005:15712223}" "" "M" "" "Germany" "" "0" "" "" "" "15712227-Pat?" "00180350" "" "" "" "1" "" "00006" "{PMID:Hübner 2005:15712223}" "" "M" "" "Germany" "" "0" "" "" "" "15712228-Pat?" "00180351" "" "" "" "1" "" "00006" "{PMID:Hübner 2005:15712223}" "" "M" "" "Germany" "" "0" "" "" "" "15712229-Pat?" "00180352" "" "" "" "1" "" "00006" "{PMID:Hübner 2005:15712223}" "" "M" "" "Germany" "" "0" "" "" "" "15712230-Pat?" "00180353" "" "" "" "1" "" "00006" "{PMID:Hübner 2005:15712223}" "" "M" "" "Germany" "" "0" "" "" "" "15712231-Pat?" "00180354" "" "" "" "1" "" "00006" "{PMID:Hübner 2005:15712223}" "" "M" "" "Germany" "" "0" "" "" "" "15712232-Pat?" "00180355" "" "" "" "1" "" "00006" "{PMID:Hübner 2005:15712223}" "" "M" "" "Germany" "" "0" "" "" "" "15712233-Pat?" "00180356" "" "" "" "1" "" "00006" "{PMID:Hübner 2005:15712223}" "" "M" "" "Germany" "" "0" "" "" "" "15712234-Pat?" "00180357" "" "" "" "1" "" "00006" "{PMID:Hübner 2005:15712223}" "2-generation family, 1 affected (M), healthy non-carrier mother" "M" "" "Germany" "" "0" "" "" "" "15712223-Pat?" "00180358" "" "" "" "2" "" "00006" "{PMID:Hübner 2005:15712223}" "2-generation family, 2 affected brothers" "M" "no" "Germany" "" "0" "" "" "" "15712223-Pat?" "00180359" "" "" "" "2" "" "00006" "{PMID:Pratt 1995:7573159}" "4-generation family, 2 affecteds (2M), 2 unaffected carrier females" "M" "" "United States" "" "0" "" "" "" "07573159-PatIV" "00180360" "" "" "00180359" "1" "" "00006" "{PMID:Pratt 1995:7573159}" "uncle" "M" "" "United States" "23y" "0" "" "" "" "07573159-PatIII2" "00180362" "" "" "" "1" "" "00006" "{PMID:Shimojima 2010:19328639}" "" "M" "" "Japan" ">14y" "0" "" "" "" "19328639-Pat1" "00180363" "" "" "" "1" "" "00006" "{PMID:Shimojima 2010:19328639}" "" "M" "" "Japan" ">14y" "0" "" "" "" "19328639-Pat2" "00180364" "" "" "" "1" "" "00006" "{PMID:Shimojima 2010:19328639}" "" "M" "" "Japan" ">33y" "0" "" "" "" "19328639-Pat3" "00180365" "" "" "" "1" "" "00006" "{PMID:Shimojima 2010:19328639}" "" "M" "" "Japan" "4y" "0" "" "" "" "19328639-Pat4" "00180366" "" "" "" "1" "" "00006" "{PMID:Shimojima 2010:19328639}" "" "M" "" "Japan" ">2y" "0" "" "" "" "19328639-Pat5" "00180367" "" "" "" "1" "" "00006" "{PMID:Shimojima 2010:19328639}" "" "M" "" "Japan" ">2y" "0" "" "" "" "19328639-Pat6" "00180368" "" "" "" "1" "" "00006" "{PMID:Shimojima 2010:19328639}" "" "M" "" "Japan" ">1y" "0" "" "" "" "19328639-Pat7" "00180369" "" "" "" "1" "" "00006" "{PMID:Shimojima 2010:19328639}" "" "M" "" "Japan" ">4y" "0" "" "" "" "19328639-Pat8" "00180370" "" "" "" "1" "" "00006" "{PMID:Shimojima 2010:19328639}" "" "M" "" "Japan" ">5m" "0" "" "" "" "19328639-Pat9" "00180371" "" "" "" "1" "" "00006" "{PMID:Shimojima 2010:19328639}" "" "M" "" "Japan" ">1y5m" "0" "" "" "" "19328639-Pat10" "00218412" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00299455" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00303035" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat80" "00374560" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-6624" "00426147" "" "" "" "1" "" "00006" "{PMID:Al-Kasbi 2022:36344539}" "patient, no other affecteds in family" "M" "" "Oman" "" "0" "" "" "" "61BS9000" "00428003" "" "" "" "1" "" "00006" "{PMID:Bournazos 2022:34906502}" "family, 1 affected" "" "" "Australia" "" "0" "" "" "" "A103" "00455796" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "M" "" "" "" "0" "" "" "" "Pat36" "00464416" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "321969" "00465841" "" "" "" "2" "" "00006" "{PMID:Alazami 2016:27023906}" "family, 2 affected" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam35" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 87 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00117956" "00187" "00117957" "00187" "00117958" "02259" "00117959" "02259" "00117960" "02259" "00180274" "02259" "00180300" "02259" "00180301" "02259" "00180302" "02259" "00180303" "02259" "00180304" "02259" "00180305" "02259" "00180306" "02259" "00180307" "02259" "00180308" "02259" "00180309" "02259" "00180310" "02259" "00180311" "02259" "00180312" "02259" "00180313" "02259" "00180314" "02259" "00180315" "02259" "00180316" "02259" "00180317" "02259" "00180318" "02259" "00180319" "02259" "00180320" "02259" "00180321" "02259" "00180322" "02259" "00180323" "02259" "00180324" "02259" "00180325" "02259" "00180326" "02259" "00180327" "02259" "00180328" "02259" "00180329" "02259" "00180330" "02259" "00180331" "02259" "00180332" "02259" "00180333" "02259" "00180334" "02259" "00180335" "02259" "00180336" "02259" "00180337" "02259" "00180338" "02259" "00180339" "02259" "00180340" "02259" "00180341" "02259" "00180342" "02259" "00180343" "02259" "00180345" "02259" "00180346" "02259" "00180347" "02259" "00180348" "02259" "00180349" "02259" "00180350" "02259" "00180351" "02259" "00180352" "02259" "00180353" "02259" "00180354" "02259" "00180355" "02259" "00180356" "02259" "00180357" "02259" "00180358" "02259" "00180359" "02259" "00180360" "02259" "00180362" "02259" "00180363" "02259" "00180364" "02259" "00180365" "02259" "00180366" "02259" "00180367" "02259" "00180368" "02259" "00180369" "02259" "00180370" "02259" "00180371" "02259" "00218412" "00198" "00299455" "00198" "00303035" "05521" "00374560" "00198" "00426147" "00139" "00428003" "00198" "00455796" "00198" "00464416" "02259" "00465841" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 00198, 01157, 02259, 02264, 05521 ## Count = 87 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000093334" "00187" "00117956" "00124" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093335" "00187" "00117957" "00124" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093336" "02259" "00117958" "01993" "Familial, X-linked recessive" "" "mild classical PMD" "" "" "" "" "" "" "" "" "" "" "" "" "0000093337" "02259" "00117959" "01993" "Familial, X-linked recessive" "" "mild classical PMD phenotype" "" "" "" "" "" "" "" "" "" "" "" "" "0000093338" "02259" "00117960" "01993" "Familial, X-linked recessive" "" "mild classical PMD" "" "" "" "" "" "" "" "" "" "" "" "" "0000142669" "02259" "00180274" "02560" "Familial, X-linked recessive" "16y" "" "00y06m" "" "09y" "" "" "" "" "" "" "Pelizaeus-Merzbacher disease" "hypotonia and horizontal nystagmus" "" "0000142694" "02259" "00180300" "00006" "Familial, X-linked recessive" "" "brother (II2) and nephew (III1) died of PMD" "" "" "" "" "" "" "" "" "" "PMD" "Pelizaeus-Merzbacher disease" "" "0000142695" "02259" "00180301" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "PMD" "Pelizaeus-Merzbacher disease" "" "0000142696" "02259" "00180302" "02560" "Familial, X-linked recessive" "3y" "3y-deceased; severe connatal Pelizaeus-Merzbacher disease" "8m" "" "" "" "" "" "" "" "" "" "" "" "0000142697" "02259" "00180303" "02560" "Familial, X-linked recessive" "4y" "classic Pelizaeus-Merzbacher disease" "3m" "" "" "" "" "" "" "" "" "" "" "" "0000142698" "02259" "00180304" "02560" "Familial, X-linked recessive" "7y" "classic Pelizaeus-Merzbacher disease" "2m" "" "" "" "" "" "" "" "" "" "" "" "0000142699" "02259" "00180305" "02560" "Isolated (sporadic)" "5y" "classic Pelizaeus-Merzbacher disease" "8m" "" "" "" "" "" "" "" "" "" "" "" "0000142700" "02259" "00180306" "02560" "Familial, X-linked recessive" "1y" "classic Pelizaeus-Merzbacher disease" "2m" "" "" "" "" "" "" "" "" "" "" "" "0000142701" "02259" "00180307" "02560" "Familial, X-linked recessive" "9y" "classic Pelizaeus-Merzbacher disease" "3m" "" "" "" "" "" "" "" "" "" "" "" "0000142702" "02259" "00180308" "02560" "Familial, X-linked recessive" "5y" "severe connatal Pelizaeus-Merzbacher disease" "2m" "" "" "" "" "" "" "" "" "" "" "" "0000142703" "02259" "00180309" "02560" "Familial, X-linked recessive" "3y" "classic Pelizaeus-Merzbacher disease" "11m" "" "" "" "" "" "" "" "" "" "" "" "0000142704" "02259" "00180310" "02560" "Familial, X-linked recessive" "4y" "severe connatal Pelizaeus-Merzbacher disease" "0d" "" "" "" "" "" "" "" "" "" "" "" "0000142705" "02259" "00180311" "02560" "Isolated (sporadic)" "6y" "complicated spastic paraplegia" "8m" "" "" "" "" "" "" "" "" "" "" "" "0000142706" "02259" "00180312" "02560" "Familial, X-linked recessive" "" "classic Pelizaeus-Merzbacher disease" "4m" "" "" "" "" "" "" "" "" "" "" "" "0000142707" "02259" "00180313" "02560" "Unknown" "12y" "12y-deceased; severe connatal Pelizaeus-Merzbacher disease" "2m" "" "" "" "" "" "" "" "" "" "" "" "0000142708" "02259" "00180314" "02560" "Familial, X-linked recessive" "3y" "PLP null syndrome" "1m" "" "" "" "" "" "" "" "" "" "" "" "0000142709" "02259" "00180315" "02560" "Familial, X-linked recessive" "4y" "severe connatal Pelizaeus-Merzbacher disease" "8m" "" "" "" "" "" "" "" "" "" "" "" "0000142710" "02259" "00180316" "02560" "Unknown" "8y" "PLP null syndrome" "6m" "" "" "" "" "" "" "" "" "" "" "" "0000142711" "02259" "00180317" "02560" "Familial, X-linked recessive" "11m" "severe connatal Pelizaeus-Merzbacher disease" "0d" "" "" "" "" "" "" "" "" "" "" "" "0000142712" "02259" "00180318" "02560" "Familial, X-linked recessive" "7m" "severe connatal Pelizaeus-Merzbacher disease" "0d" "" "" "" "" "" "" "" "" "" "" "" "0000142713" "02259" "00180319" "02560" "Unknown" "13y" "13y-deceased; complicated spastic paraplegia" "1y" "" "" "" "" "" "" "" "" "" "" "" "0000142714" "02259" "00180320" "02560" "Familial, X-linked recessive" "28y" "classic Pelizaeus-Merzbacher disease" "3m" "" "" "" "" "" "" "" "" "" "" "" "0000142715" "02259" "00180321" "00006" "Unknown" "" "severe Pelizaeus-Merzbacher disease" "" "" "" "" "" "" "" "" "" "PMD" "Pelizaeus-Merzbacher disease" "" "0000142716" "02259" "00180322" "00006" "Unknown" "" "severe Pelizaeus-Merzbacher disease" "00y-01y" "" "" "" "" "" "" "" "" "PMD" "Pelizaeus-Merzbacher disease" "" "0000142717" "02259" "00180323" "00006" "Unknown" "" "severe connatal Pelizaeus-Merzbacher disease" "" "" "" "" "" "" "" "" "" "PMD" "Pelizaeus-Merzbacher disease" "" "0000142718" "02259" "00180324" "00006" "Unknown" "" "severe connatal Pelizaeus-Merzbacher disease" "" "" "" "" "" "" "" "" "" "PMD" "Pelizaeus-Merzbacher disease" "" "0000142719" "02259" "00180325" "00006" "Unknown" "" "classic Pelizaeus-Merzbacher disease" "" "" "" "" "" "" "" "" "" "PMD" "Pelizaeus-Merzbacher disease" "" "0000142720" "02259" "00180326" "00006" "Unknown" "" "Pelizaeus-Merzbacher disease" "" "" "" "" "" "" "" "" "" "PMD" "Pelizaeus-Merzbacher disease" "" "0000142721" "02259" "00180327" "00006" "Unknown" "" "severe Pelizaeus-Merzbacher disease" "00y-01y" "" "" "" "" "" "" "" "" "PMD" "Pelizaeus-Merzbacher disease" "" "0000142722" "02259" "00180328" "00006" "Unknown" "" "severe Pelizaeus-Merzbacher disease" "00y-01y" "" "" "" "" "" "" "" "" "PMD" "Pelizaeus-Merzbacher disease" "" "0000142723" "02259" "00180329" "00006" "Unknown" "" "mild Pelizaeus-Merzbacher disease" "00y-01y" "" "" "" "" "" "" "" "" "PMD" "Pelizaeus-Merzbacher disease" "" "0000142724" "02259" "00180330" "00006" "Unknown" "" "severe Pelizaeus-Merzbacher disease" "00y-01y" "" "" "" "" "" "" "" "" "PMD" "Pelizaeus-Merzbacher disease" "" "0000142725" "02259" "00180331" "00006" "Unknown" "" "severe Pelizaeus-Merzbacher disease" "" "" "" "" "" "" "" "" "" "PMD" "Pelizaeus-Merzbacher disease" "" "0000142726" "02259" "00180332" "00006" "Unknown" "" "classic Pelizaeus-Merzbacher disease" "00y-01y" "" "" "" "" "" "" "" "" "PMD" "Pelizaeus-Merzbacher disease" "" "0000142727" "02259" "00180333" "00006" "Unknown" "" "Pelizaeus-Merzbacher disease" "" "" "" "" "" "" "" "" "" "PMD" "Pelizaeus-Merzbacher disease" "" "0000142728" "02259" "00180334" "00006" "Unknown" "" "mild Pelizaeus-Merzbacher disease" "00y-01y" "" "" "" "" "" "" "" "" "PMD" "Pelizaeus-Merzbacher disease" "" "0000142729" "02259" "00180335" "00006" "Unknown" "" "mild Pelizaeus-Merzbacher disease" "01y-02y" "" "" "" "" "" "" "" "" "PMD" "Pelizaeus-Merzbacher disease" "" "0000142730" "02259" "00180336" "00006" "Unknown" "" "classic Pelizaeus-Merzbacher disease" "" "" "" "" "" "" "" "" "" "PMD" "Pelizaeus-Merzbacher disease" "" "0000142731" "02259" "00180337" "00006" "Unknown" "" "classic Pelizaeus-Merzbacher disease" "00y-01y" "" "" "" "" "" "" "" "" "PMD" "Pelizaeus-Merzbacher disease" "" "0000142732" "02259" "00180338" "00006" "Unknown" "" "Pelizaeus-Merzbacher disease" "" "" "" "" "" "" "" "" "" "PMD" "Pelizaeus-Merzbacher disease" "" "0000142733" "02259" "00180339" "00006" "Unknown" "" "classic Pelizaeus-Merzbacher disease" "00y-01y" "" "" "" "" "" "" "" "" "PMD" "Pelizaeus-Merzbacher disease" "" "0000142734" "02259" "00180340" "00006" "Unknown" "" "Pelizaeus-Merzbacher disease" "" "" "" "" "" "" "" "" "" "PMD" "Pelizaeus-Merzbacher disease" "" "0000142735" "02259" "00180341" "00006" "Unknown" "" "classic Pelizaeus-Merzbacher disease" "00y-01y" "" "" "" "" "" "" "" "" "PMD" "Pelizaeus-Merzbacher disease" "" "0000142736" "02259" "00180342" "00006" "Unknown" "" "Pelizaeus-Merzbacher disease" "" "" "" "" "" "" "" "" "" "" "Pelizaeus-Merzbacher disease" "" "0000142737" "02259" "00180343" "00006" "Unknown" "" "Pelizaeus-Merzbacher disease" "" "" "" "" "" "" "" "" "" "" "Pelizaeus-Merzbacher disease" "" "0000142739" "02259" "00180345" "00006" "Unknown" "" "severe Pelizaeus-Merzbacher disease" "" "" "" "" "" "" "" "" "" "PMD" "Pelizaeus-Merzbacher disease" "" "0000142740" "02259" "00180346" "00006" "Unknown" "" "severe Pelizaeus-Merzbacher disease" "" "" "" "" "" "" "" "" "" "PMD" "Pelizaeus-Merzbacher disease" "" "0000142741" "02259" "00180347" "00006" "Unknown" "" "severe Pelizaeus-Merzbacher disease" "" "" "" "" "" "" "" "" "" "PMD" "Pelizaeus-Merzbacher disease" "" "0000142742" "02259" "00180348" "00006" "Unknown" "" "severe Pelizaeus-Merzbacher disease" "" "" "" "" "" "" "" "" "" "PMD" "Pelizaeus-Merzbacher disease" "" "0000142743" "02259" "00180349" "00006" "Unknown" "" "severe Pelizaeus-Merzbacher disease" "" "" "" "" "" "" "" "" "" "PMD" "Pelizaeus-Merzbacher disease" "" "0000142744" "02259" "00180350" "00006" "Unknown" "" "classic Pelizaeus-Merzbacher disease" "" "" "" "" "" "" "" "" "" "PMD" "Pelizaeus-Merzbacher disease" "" "0000142745" "02259" "00180351" "00006" "Unknown" "" "classic Pelizaeus-Merzbacher disease" "" "" "" "" "" "" "" "" "" "PMD" "Pelizaeus-Merzbacher disease" "" "0000142746" "02259" "00180352" "00006" "Unknown" "" "classic Pelizaeus-Merzbacher disease" "" "" "" "" "" "" "" "" "" "PMD" "Pelizaeus-Merzbacher disease" "" "0000142747" "02259" "00180353" "00006" "Unknown" "" "mild Pelizaeus-Merzbacher disease, no nystagmus, ambulant" "" "" "" "" "" "" "" "" "" "PMD" "Pelizaeus-Merzbacher disease" "" "0000142748" "02259" "00180354" "00006" "Unknown" "" "mild Pelizaeus-Merzbacher disease, no nystagmus, ambulant" "" "" "" "" "" "" "" "" "" "PMD" "Pelizaeus-Merzbacher disease" "" "0000142749" "02259" "00180355" "00006" "Unknown" "" "mild Pelizaeus-Merzbacher disease, no nystagmus, ambulant" "" "" "" "" "" "" "" "" "" "PMD" "Pelizaeus-Merzbacher disease" "" "0000142750" "02259" "00180356" "00006" "Unknown" "" "mild Pelizaeus-Merzbacher disease, no nystagmus, ambulant" "" "" "" "" "" "" "" "" "" "PMD" "Pelizaeus-Merzbacher disease" "" "0000142751" "02259" "00180357" "00006" "Isolated (sporadic)" "" "classic Pelizaeus-Merzbacher disease" "" "" "" "" "" "" "" "" "" "PMD" "Pelizaeus-Merzbacher disease" "" "0000142752" "02259" "00180358" "00006" "Familial, X-linked recessive" "" "severely handicapped, disease onset shortly after birth" "" "" "" "" "" "" "" "" "" "PMD" "Pelizaeus-Merzbacher disease" "" "0000142753" "02259" "00180359" "00006" "Familial, X-linked recessive" "04y" "nystagmus from birth; 1m-respiratory difficulty, tracheomalacia, brain stem auditory evoked response showed extremely slow conduction velocity with only waves 1 and 2 present bilaterally; 13m-MRI scan was extremely abnormal with poor myelination white matter, EMG showed no involvement peripheral nervous system; 4y-not able to sit, speak, feed himself." "" "" "" "" "" "" "" "" "" "PMD" "Pelizaeus-Merzbacher disease" "" "0000142754" "02259" "00180360" "00006" "Familial, X-linked recessive" "" "inspiratory stridor, failure to thrive, nystagmus, spasticity, joint contractures, scoliosis; 21y-head CT scan showed severe atrophy with \r\ndemyelination; died at 23y autopsy showed marked cerebellar atrophy, microscopic brain sections showed absence of myelin with preservation of axons diffusely within the white matter:" "" "" "" "" "" "" "" "" "" "PMD" "Pelizaeus-Merzbacher disease" "" "0000142755" "02259" "00180362" "00006" "Familial, X-linked recessive" "1y" "severity score 0; no head control; not sitting; not walking; nystagmus; muscular hypotonia; no pyramidal signs; tremor; auditory brain response only I-III waves; MRI delayed myelination" "1m" "" "" "nystagmus" "" "" "" "" "" "PMD" "connatal Pelizaeus-Merzbacher disease" "" "0000142756" "02259" "00180363" "00006" "Isolated (sporadic)" "14y" "severity score 2; 7m-head control; 4y-sitting; 4y-walking; nystagmus; no muscular hypotonia; pyramidal signs; ataxia; dysarthria; disease deteriorating, now only sitting; auditory brain response only I-III waves; MRI incomplete myelination" "1d" "" "" "nystagmus" "" "" "" "" "" "PMD" "classic Pelizaeus-Merzbacher disease" "" "0000142757" "02259" "00180364" "00006" "Unknown" "20y" "severity score 0; no head control; not sitting; not walking; no nystagmus; muscular hypotonia; pyramidal signs" "" "" "" "" "" "" "" "" "" "PMD" "connatal Pelizaeus-Merzbacher disease" "" "0000142758" "02259" "00180365" "00006" "Isolated (sporadic)" "4m" "severity score 0; no head control; not sitting; not walking; nystagmus; muscular hypotonia; seizures; choreoathetosis; auditory brain response only I wave; MRI hypomyelination" "1d" "" "" "nystagmus" "" "" "" "" "" "PMD" "connatal Pelizaeus-Merzbacher disease" "" "0000142759" "02259" "00180366" "00006" "Isolated (sporadic)" "2y" "severity score 0; no head control; not sitting; not walking; nystagmus; muscular hypotonia; pyramidal signs; auditory brain response only I wave; MRI hypomyelination" "1m" "" "" "nystagmus, hypotonia" "" "" "" "" "" "PMD" "connatal Pelizaeus-Merzbacher disease" "" "0000142760" "02259" "00180367" "00006" "Isolated (sporadic)" "2y" "severity score 0; no head control; not sitting; not walking; nystagmus; muscular hypotonia (upper limbs); pyramidal signs (lower limbs); auditory brain response only I wave; MRI delayed myelination" "2m" "" "" "nystagmus" "" "" "" "" "" "PMD" "connatal Pelizaeus-Merzbacher disease" "" "0000142761" "02259" "00180368" "00006" "Isolated (sporadic)" "1y" "severity score 0; no head control; not sitting; not walking; nystagmus; muscular hypotonia; no pyramidal signs; strider; auditory brain response only I-III waves; MRI delayed myelination" "1d" "" "" "asphyxia" "" "" "" "" "" "PMD" "connatal Pelizaeus-Merzbacher disease" "" "0000142762" "02259" "00180369" "00006" "Isolated (sporadic)" "1y" "severity score 0; no head control; not sitting; not walking; nystagmus; muscular hypotonia; no pyramidal signs; seizures; auditory brain response only I wave; MRI delayed myelination" "7d" "" "" "abnormal auditory brain response" "" "" "" "" "" "PMD" "connatal Pelizaeus-Merzbacher disease" "" "0000142763" "02259" "00180370" "00006" "Isolated (sporadic)" "4m" "severity score 0; no head control; not sitting; not walking; nystagmus; muscular hypotonia; no pyramidal signs; seizures; microcephaly; auditory brain response only I wave; MRI delayed myelination" "1m" "" "" "microcephaly (-3.2SD)" "" "" "" "" "" "PMD" "connatal Pelizaeus-Merzbacher disease" "" "0000142764" "02259" "00180371" "00006" "Isolated (sporadic)" "1y5m" "severity score 0; no head control; not sitting; not walking; nystagmus; muscular hypotonia; sensori-neural seizures; auditory brain response only I-II waves; MRI hypomyelination" "1m" "" "" "nystagmus" "" "" "" "" "" "PMD" "connatal Pelizaeus-Merzbacher disease" "" "0000166896" "00198" "00218412" "01807" "Unknown" "" "HP:0001258 (Spastic paraplegia)" "" "" "" "" "" "" "" "" "" "" "" "" "0000226765" "00198" "00299455" "01164" "Unknown" "" "Muscular dystrophy (HP:0003560); Areflexia (HP:0001284); Muscular hypotonia (HP:0001252); Abnormality of eye movement (HP:0000496)" "" "" "" "" "" "" "" "" "" "" "" "" "0000230118" "05521" "00303035" "00006" "Familial, X-linked" "" "Unclassified epilepsy; age onset childhood" "" "" "" "" "" "" "" "" "" "" "seizures" "" "0000269770" "00198" "00374560" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Pelizaeus-Merzbacher disease" "" "0000317297" "00139" "00426147" "00006" "Familial, X-linked recessive" "4y" "" "" "" "" "" "" "" "" "" "" "Pelizaeus-Merzbacher disease" "intellectual disability" "" "0000318949" "00198" "00428003" "00006" "Unknown" "43y" "" "" "" "" "" "" "" "" "" "" "Pelizaeus-Merzbacher disease" "" "" "0000344329" "00198" "00455796" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "neurogenetic diseases" "" "0000350436" "02259" "00464416" "01164" "Unknown" "02y" "Neurodevelopmental delay, Delayed gross motor development, Expressive language delay, Intention tremor, Hyperreflexia, Babinski sign, Brachycephaly, Plagiocephaly" "" "" "" "" "" "" "" "" "" "" "" "" "0000351288" "00198" "00465841" "00006" "Familial, autosomal recessive" "" "see paper; ..., Severe joint laxity, fractures, global developmental delay, seizure disorder, encephalopathy, severe hypotonia, asthma, subtle dysmorphism (tented upper lip, upturned nose), horizontal nystagmus, exaggerated lordosis" "" "" "" "" "" "" "" "" "" "" "joint laxity" "" ## Screenings ## Do not remove or alter this header ## ## Count = 88 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000034" "00000034" "1" "00004" "" "2012-05-11 13:18:44" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000118419" "00117956" "1" "00124" "00006" "2009-04-08 14:01:02" "" "" "SEQ" "DNA" "" "" "0000118420" "00117957" "1" "00124" "00006" "2009-04-08 14:01:02" "" "" "SEQ" "DNA" "" "" "0000118421" "00117958" "1" "01993" "01993" "2014-06-05 23:38:53" "00006" "2014-07-04 22:34:46" "SEQ" "DNA" "" "" "0000118422" "00117959" "1" "01993" "01993" "2014-06-05 23:44:49" "00006" "2014-07-04 22:41:33" "SEQ" "DNA" "" "" "0000118423" "00117960" "1" "01993" "01993" "2014-06-05 23:48:27" "00006" "2014-07-04 22:36:45" "SEQ" "DNA" "" "" "0000181208" "00180274" "1" "02560" "02560" "2018-08-30 11:50:43" "" "" "MLPA;PCR;SEQ" "DNA" "blood" "" "0000181237" "00180300" "1" "00006" "00006" "2018-09-04 21:04:06" "" "" "SEQ;SSCA" "DNA" "" "" "0000181238" "00180301" "1" "00006" "00006" "2018-09-04 21:09:38" "" "" "SEQ;SSCA" "DNA" "" "" "0000181239" "00180302" "1" "02560" "00006" "2018-09-04 21:41:19" "" "" "arrayCGH" "DNA" "peripheral blood leucocytes" "" "0000181240" "00180303" "1" "02560" "00006" "2018-09-04 21:41:19" "" "" "arrayCGH" "DNA" "peripheral blood leucocytes" "" "0000181241" "00180304" "1" "02560" "00006" "2018-09-04 21:41:19" "" "" "arrayCGH" "DNA" "peripheral blood leucocytes" "" "0000181242" "00180305" "1" "02560" "00006" "2018-09-04 21:41:19" "" "" "arrayCGH" "DNA" "peripheral blood leucocytes" "" "0000181243" "00180306" "1" "02560" "00006" "2018-09-04 21:41:19" "" "" "arrayCGH" "DNA" "peripheral blood leucocytes" "" "0000181244" "00180307" "1" "02560" "00006" "2018-09-04 21:41:19" "" "" "arrayCGH" "DNA" "peripheral blood leucocytes" "" "0000181245" "00180308" "1" "02560" "00006" "2018-09-04 21:41:19" "" "" "arrayCGH" "DNA" "peripheral blood leucocytes" "" "0000181246" "00180309" "1" "02560" "00006" "2018-09-04 21:41:19" "" "" "arrayCGH" "DNA" "peripheral blood leucocytes" "" "0000181247" "00180310" "1" "02560" "00006" "2018-09-04 21:41:19" "" "" "SEQ" "DNA" "peripheral blood leucocytes" "" "0000181248" "00180311" "1" "02560" "00006" "2018-09-04 21:41:19" "" "" "SEQ" "DNA" "peripheral blood leucocytes" "" "0000181249" "00180312" "1" "02560" "00006" "2018-09-04 21:41:19" "" "" "SEQ" "DNA" "peripheral blood leucocytes" "" "0000181250" "00180313" "1" "02560" "00006" "2018-09-04 21:41:19" "" "" "SEQ" "DNA" "peripheral blood leucocytes" "" "0000181251" "00180314" "1" "02560" "00006" "2018-09-04 21:41:19" "" "" "SEQ" "DNA" "peripheral blood leucocytes" "" "0000181252" "00180315" "1" "02560" "00006" "2018-09-04 21:41:19" "" "" "SEQ" "DNA" "peripheral blood leucocytes" "" "0000181253" "00180316" "1" "02560" "00006" "2018-09-04 21:41:19" "" "" "SEQ" "DNA" "peripheral blood leucocytes" "" "0000181254" "00180317" "1" "02560" "00006" "2018-09-04 21:41:19" "" "" "SEQ" "DNA" "peripheral blood leucocytes" "" "0000181255" "00180318" "1" "02560" "00006" "2018-09-04 21:41:19" "" "" "SEQ" "DNA" "peripheral blood leucocytes" "" "0000181256" "00180319" "1" "02560" "00006" "2018-09-04 21:41:19" "" "" "SEQ" "DNA" "peripheral blood leucocytes" "" "0000181257" "00180320" "1" "02560" "00006" "2018-09-04 21:41:19" "" "" "SEQ" "DNA" "peripheral blood leucocytes" "" "0000181258" "00180321" "1" "00006" "00006" "2018-09-04 22:50:11" "" "" "SEQ;SSCA" "DNA" "peripheral blood leucocytes" "" "0000181259" "00180322" "1" "00006" "00006" "2018-09-04 22:50:11" "" "" "SEQ;SSCA" "DNA" "peripheral blood leucocytes" "" "0000181260" "00180323" "1" "00006" "00006" "2018-09-04 22:50:11" "" "" "SEQ;SSCA" "DNA" "peripheral blood leucocytes" "" "0000181261" "00180324" "1" "00006" "00006" "2018-09-04 22:50:11" "" "" "SEQ;SSCA" "DNA" "peripheral blood leucocytes" "" "0000181262" "00180325" "1" "00006" "00006" "2018-09-04 22:50:11" "" "" "SEQ;SSCA" "DNA" "peripheral blood leucocytes" "" "0000181263" "00180326" "1" "00006" "00006" "2018-09-04 22:50:11" "" "" "SEQ;SSCA" "DNA" "peripheral blood leucocytes" "" "0000181264" "00180327" "1" "00006" "00006" "2018-09-04 22:50:11" "" "" "SEQ;SSCA" "DNA" "peripheral blood leucocytes" "" "0000181265" "00180328" "1" "00006" "00006" "2018-09-04 22:50:11" "" "" "SEQ;SSCA" "DNA" "peripheral blood leucocytes" "" "0000181266" "00180329" "1" "00006" "00006" "2018-09-04 22:50:11" "" "" "SEQ;SSCA" "DNA" "peripheral blood leucocytes" "" "0000181267" "00180330" "1" "00006" "00006" "2018-09-04 22:50:11" "" "" "SEQ;SSCA" "DNA" "peripheral blood leucocytes" "" "0000181268" "00180331" "1" "00006" "00006" "2018-09-04 22:50:11" "" "" "SEQ;SSCA" "DNA" "peripheral blood leucocytes" "" "0000181269" "00180332" "1" "00006" "00006" "2018-09-04 22:50:11" "" "" "SEQ;SSCA" "DNA" "peripheral blood leucocytes" "" "0000181270" "00180333" "1" "00006" "00006" "2018-09-04 22:50:11" "" "" "SEQ;SSCA" "DNA" "peripheral blood leucocytes" "" "0000181271" "00180334" "1" "00006" "00006" "2018-09-04 22:50:11" "" "" "SEQ;SSCA" "DNA" "peripheral blood leucocytes" "" "0000181272" "00180335" "1" "00006" "00006" "2018-09-04 22:50:11" "" "" "SEQ;SSCA" "DNA" "peripheral blood leucocytes" "" "0000181273" "00180336" "1" "00006" "00006" "2018-09-04 22:50:11" "" "" "SEQ;SSCA" "DNA" "peripheral blood leucocytes" "" "0000181274" "00180337" "1" "00006" "00006" "2018-09-04 22:50:11" "" "" "SEQ;SSCA" "DNA" "peripheral blood leucocytes" "" "0000181275" "00180338" "1" "00006" "00006" "2018-09-04 22:50:11" "" "" "SEQ;SSCA" "DNA" "peripheral blood leucocytes" "" "0000181276" "00180339" "1" "00006" "00006" "2018-09-04 22:50:11" "" "" "SEQ;SSCA" "DNA" "peripheral blood leucocytes" "" "0000181277" "00180340" "1" "00006" "00006" "2018-09-04 22:50:11" "" "" "SEQ;SSCA" "DNA" "peripheral blood leucocytes" "" "0000181278" "00180341" "1" "00006" "00006" "2018-09-04 22:50:11" "" "" "SEQ;SSCA" "DNA" "peripheral blood leucocytes" "" "0000181279" "00180342" "1" "00006" "00006" "2018-09-04 22:50:11" "" "" "SEQ;SSCA" "DNA" "peripheral blood leucocytes" "" "0000181280" "00180343" "1" "00006" "00006" "2018-09-04 22:50:11" "" "" "SEQ;SSCA" "DNA" "peripheral blood leucocytes" "" "0000181281" "00180345" "1" "00006" "00006" "2018-09-04 23:01:52" "" "" "PCRq" "DNA" "peripheral blood leucocytes" "qPCR exon 4" "0000181282" "00180346" "1" "00006" "00006" "2018-09-04 23:01:52" "" "" "PCRq" "DNA" "peripheral blood leucocytes" "qPCR exon 4" "0000181283" "00180347" "1" "00006" "00006" "2018-09-04 23:01:52" "" "" "PCRq" "DNA" "peripheral blood leucocytes" "qPCR exon 4" "0000181284" "00180348" "1" "00006" "00006" "2018-09-04 23:01:52" "" "" "PCRq" "DNA" "peripheral blood leucocytes" "qPCR exon 4" "0000181285" "00180349" "1" "00006" "00006" "2018-09-04 23:01:52" "" "" "PCRq" "DNA" "peripheral blood leucocytes" "qPCR exon 4" "0000181286" "00180350" "1" "00006" "00006" "2018-09-04 23:01:52" "" "" "PCRq" "DNA" "peripheral blood leucocytes" "qPCR exon 4" "0000181287" "00180351" "1" "00006" "00006" "2018-09-04 23:01:52" "" "" "PCRq" "DNA" "peripheral blood leucocytes" "qPCR exon 4" "0000181288" "00180352" "1" "00006" "00006" "2018-09-04 23:01:52" "" "" "PCRq" "DNA" "peripheral blood leucocytes" "qPCR exon 4" "0000181289" "00180353" "1" "00006" "00006" "2018-09-04 23:01:52" "" "" "PCRq" "DNA" "peripheral blood leucocytes" "qPCR exon 4" "0000181290" "00180354" "1" "00006" "00006" "2018-09-04 23:01:52" "" "" "PCRq" "DNA" "peripheral blood leucocytes" "qPCR exon 4" "0000181291" "00180355" "1" "00006" "00006" "2018-09-04 23:01:52" "" "" "PCRq" "DNA" "peripheral blood leucocytes" "qPCR exon 4" "0000181292" "00180356" "1" "00006" "00006" "2018-09-04 23:01:52" "" "" "PCRq" "DNA" "peripheral blood leucocytes" "qPCR exon 4" "0000181293" "00180357" "1" "00006" "00006" "2018-09-04 23:06:15" "" "" "PCR;SEQ" "DNA" "" "" "0000181294" "00180358" "1" "00006" "00006" "2018-09-04 23:17:54" "" "" "PCRq" "DNA" "" "" "0000181295" "00180359" "1" "00006" "00006" "2018-09-05 08:24:57" "" "" "SEQ;SSCA" "DNA" "" "" "0000181296" "00180360" "1" "00006" "00006" "2018-09-05 08:29:14" "" "" "SEQ" "DNA" "" "" "0000181298" "00180362" "1" "00006" "00006" "2018-09-05 09:32:48" "" "" "arrayCGH" "DNA" "peripheral blood leucocytes" "" "0000181299" "00180363" "1" "00006" "00006" "2018-09-05 09:32:48" "" "" "arrayCGH" "DNA" "peripheral blood leucocytes" "" "0000181300" "00180364" "1" "00006" "00006" "2018-09-05 09:32:48" "" "" "arrayCGH" "DNA" "peripheral blood leucocytes" "" "0000181301" "00180365" "1" "00006" "00006" "2018-09-05 09:32:48" "" "" "arrayCGH" "DNA" "peripheral blood leucocytes" "" "0000181302" "00180366" "1" "00006" "00006" "2018-09-05 09:32:48" "" "" "arrayCGH" "DNA" "peripheral blood leucocytes" "" "0000181303" "00180367" "1" "00006" "00006" "2018-09-05 09:32:48" "" "" "SEQ" "DNA" "peripheral blood leucocytes" "" "0000181304" "00180368" "1" "00006" "00006" "2018-09-05 09:32:48" "" "" "SEQ" "DNA" "peripheral blood leucocytes" "" "0000181305" "00180369" "1" "00006" "00006" "2018-09-05 09:32:48" "" "" "SEQ" "DNA" "peripheral blood leucocytes" "" "0000181306" "00180370" "1" "00006" "00006" "2018-09-05 09:32:48" "" "" "SEQ" "DNA" "peripheral blood leucocytes" "" "0000181307" "00180371" "1" "00006" "00006" "2018-09-05 09:32:48" "" "" "SEQ" "DNA" "peripheral blood leucocytes" "" "0000219483" "00218412" "1" "01807" "01807" "2019-01-29 15:03:12" "" "" "SEQ" "DNA" "" "" "0000300565" "00299455" "1" "01164" "01164" "2020-04-17 09:52:02" "" "" "SEQ-NG-S" "DNA" "" "" "0000304160" "00303035" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000375754" "00374560" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000427467" "00426147" "1" "00006" "00006" "2022-11-28 11:02:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429416" "00428003" "1" "00006" "00006" "2022-12-19 13:11:26" "" "" "RT-PCR;SEQ;SEQ-NG-RNA" "DNA;RNA" "whole blood" "singleton WES" "0000457412" "00455796" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000466050" "00464416" "1" "01164" "01164" "2025-03-11 17:18:36" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000467492" "00465841" "1" "00006" "00006" "2025-06-07 12:17:17" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 93 "{{screeningid}}" "{{geneid}}" "0000000034" "ATP7B" "0000000034" "CBS" "0000000034" "CYP21A2" "0000000034" "DPYD" "0000000034" "ETFB" "0000000034" "GLB1" "0000000034" "GNPTAB" "0000000034" "IGHMBP2" "0000000034" "NHLRC1" "0000000034" "SERPINA1" "0000000034" "SLC26A2" "0000000034" "SMPD1" "0000118419" "PLP1" "0000118420" "PLP1" "0000118421" "PLP1" "0000118422" "PLP1" "0000118423" "PLP1" "0000181208" "PLP1" "0000181237" "PLP1" "0000181238" "PLP1" "0000181239" "PLP1" "0000181240" "PLP1" "0000181241" "PLP1" "0000181242" "PLP1" "0000181243" "PLP1" "0000181244" "PLP1" "0000181245" "PLP1" "0000181246" "PLP1" "0000181247" "PLP1" "0000181248" "PLP1" "0000181249" "PLP1" "0000181250" "PLP1" "0000181251" "PLP1" "0000181252" "PLP1" "0000181253" "PLP1" "0000181254" "PLP1" "0000181255" "PLP1" "0000181256" "PLP1" "0000181257" "PLP1" "0000181258" "PLP1" "0000181259" "PLP1" "0000181260" "PLP1" "0000181261" "PLP1" "0000181262" "PLP1" "0000181263" "PLP1" "0000181264" "PLP1" "0000181265" "PLP1" "0000181266" "PLP1" "0000181267" "PLP1" "0000181268" "PLP1" "0000181269" "PLP1" "0000181270" "PLP1" "0000181271" "PLP1" "0000181272" "PLP1" "0000181273" "PLP1" "0000181274" "PLP1" "0000181275" "PLP1" "0000181276" "PLP1" "0000181277" "PLP1" "0000181278" "PLP1" "0000181279" "PLP1" "0000181280" "PLP1" "0000181281" "PLP1" "0000181282" "PLP1" "0000181283" "PLP1" "0000181284" "PLP1" "0000181285" "PLP1" "0000181286" "PLP1" "0000181287" "PLP1" "0000181288" "PLP1" "0000181289" "PLP1" "0000181290" "PLP1" "0000181291" "PLP1" "0000181292" "PLP1" "0000181293" "PLP1" "0000181293" "RAB9B" "0000181294" "PLP1" "0000181294" "RAB9B" "0000181295" "PLP1" "0000181296" "PLP1" "0000181298" "PLP1" "0000181299" "PLP1" "0000181300" "PLP1" "0000181301" "PLP1" "0000181302" "PLP1" "0000181303" "PLP1" "0000181304" "PLP1" "0000181305" "PLP1" "0000181306" "PLP1" "0000181307" "PLP1" "0000304160" "PLP1" "0000375754" "PLP1" "0000466050" "PLP1" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 143 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000002082" "20" "50" "X" "103031703" "103031703" "dup" "0" "00037" "PLP1_000006" "g.103031703dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.103776775dup" "" "VUS" "" "0000002083" "20" "50" "X" "103046531" "103046531" "del" "0" "00037" "PLP1_000007" "g.103046531del" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000003137" "20" "50" "X" "103031703" "103031703" "dup" "0" "00037" "PLP1_000020" "g.103031703dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.103776775dup" "" "VUS" "" "0000003138" "20" "50" "X" "103046526" "103046526" "del" "0" "00037" "PLP1_000018" "g.103046526del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.103791598del" "" "VUS" "" "0000007387" "20" "50" "X" "103040167" "103040167" "subst" "0" "00037" "PLP1_000009" "g.103040167G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.103785238G>A" "" "VUS" "" "0000007388" "20" "50" "X" "103040400" "103040400" "subst" "0" "00037" "PLP1_000011" "g.103040400T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.103785471T>C" "" "VUS" "" "0000007389" "20" "50" "X" "103043497" "103043497" "subst" "0" "00037" "PLP1_000014" "g.103043497C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.103788568C>A" "" "VUS" "" "0000009501" "20" "50" "X" "103031703" "103031703" "dup" "0" "00037" "PLP1_000006" "g.103031703dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.103776775dup" "" "VUS" "" "0000009502" "20" "50" "X" "103040400" "103040400" "subst" "0" "00037" "PLP1_000011" "g.103040400T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.103785471T>C" "" "VUS" "" "0000009503" "20" "50" "X" "103043497" "103043497" "subst" "0" "00037" "PLP1_000014" "g.103043497C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.103788568C>A" "" "VUS" "" "0000009504" "20" "50" "X" "103046531" "103046531" "del" "0" "00037" "PLP1_000007" "g.103046531del" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000011119" "20" "50" "X" "103031703" "103031703" "dup" "0" "00037" "PLP1_000020" "g.103031703dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.103776775dup" "" "VUS" "" "0000011120" "20" "50" "X" "103045151" "103045151" "dup" "0" "00037" "PLP1_000021" "g.103045151dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.103790220dup" "" "VUS" "" "0000011121" "20" "50" "X" "103046526" "103046526" "del" "0" "00037" "PLP1_000018" "g.103046526del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.103791598del" "" "VUS" "" "0000011122" "0" "50" "X" "103047048" "103047048" "del" "0" "00037" "PLP1_000017" "g.103047048del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.103792119del" "" "VUS" "" "0000015361" "20" "50" "X" "103040100" "103040100" "subst" "0" "00037" "PLP1_000008" "g.103040100T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.103785171T>C" "" "VUS" "" "0000015362" "20" "50" "X" "103040167" "103040167" "subst" "0" "00037" "PLP1_000009" "g.103040167G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.103785238G>A" "" "VUS" "" "0000194524" "1" "30" "X" "103042732" "103042732" "subst" "0" "00124" "PLP1_000001" "g.103042732G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "V153V" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.103787803G>A" "" "likely benign" "" "0000194525" "1" "10" "X" "103042882" "103042882" "subst" "0.285836" "00124" "PLP1_000002" "g.103042882T>C" "61/208 cases" "{PMID:Tarpey 2009:19377476}" "" "D203D" "recurrent, found 61 times" "Germline" "" "" "0" "" "" "g.103787953T>C" "" "benign" "" "0000194526" "21" "90" "X" "103042405" "103042405" "subst" "0" "01993" "PLP1_000003" "g.103042405G>A" "" "{PMID:Taube 2014:24890387}" "" "" "only 0.06-0.09 normally spliced RNA in skin fibroblasts (NOTE: functional protein is expressed in brain)" "Germline" "yes" "" "0" "" "" "g.103787476G>A" "" "pathogenic" "" "0000194527" "21" "90" "X" "103042413" "103042413" "subst" "0" "01993" "PLP1_000004" "g.103042413T>A" "" "{PMID:Taube 2014:24890387}" "" "" "no RNA available" "Germline" "yes" "" "0" "" "" "g.103787484T>A" "" "pathogenic" "" "0000194528" "21" "90" "X" "103042413" "103042413" "subst" "0" "01993" "PLP1_000005" "g.103042413T>G" "" "{PMID:Taube 2014:24890387}" "" "" "no RNA available" "Germline" "yes" "" "0" "" "" "g.103787484T>G" "" "pathogenic" "" "0000250491" "0" "70" "X" "103041533" "103041533" "subst" "0" "02329" "PLP1_000042" "g.103041533A>C" "" "" "" "PLP1(NM_001128834.2):c.331A>C (p.K111Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103786604A>C" "" "likely pathogenic" "" "0000250505" "0" "70" "X" "103040509" "103040509" "subst" "0" "02329" "PLP1_000041" "g.103040509A>G" "" "" "" "PLP1(NM_001128834.2):c.5-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103785580A>G" "" "likely pathogenic" "" "0000253671" "0" "10" "X" "103040674" "103040674" "subst" "0.00345271" "01943" "PLP1_000025" "g.103040674A>G" "" "" "" "PLP1(NM_001128834.2):c.168A>G (p.Q56=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103785745A>G" "" "benign" "" "0000297136" "0" "30" "X" "103042882" "103042882" "subst" "0.285836" "02325" "PLP1_000002" "g.103042882T>C" "" "" "" "PLP1(NM_000533.5):c.609T>C (p.D203=), PLP1(NM_001128834.3):c.609T>C (p.D203=), RAB9B(NR_146560.2):n.718+4728A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103787953T>C" "" "likely benign" "" "0000297137" "0" "30" "X" "103045435" "103045435" "subst" "0.00028663" "02325" "PLP1_000029" "g.103045435C>A" "" "" "" "PLP1(NM_001128834.3):c.763-20C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103790507C>A" "" "likely benign" "" "0000301044" "0" "30" "X" "103031893" "103031893" "subst" "0.00340954" "02326" "PLP1_000024" "g.103031893C>T" "" "" "" "PLP1(NM_000533.5):c.-31C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103776965C>T" "" "likely benign" "" "0000301045" "0" "10" "X" "103031830" "103031830" "subst" "0" "02326" "PLP1_000023" "g.103031830G>A" "" "" "" "PLP1(NM_000533.5):c.-94G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103776902G>A" "" "benign" "" "0000301046" "0" "30" "X" "103042822" "103042822" "subst" "6.16046E-5" "02326" "PLP1_000026" "g.103042822C>A" "" "" "" "PLP1(NM_000533.5):c.549C>A (p.T183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103787893C>A" "" "likely benign" "" "0000301047" "0" "10" "X" "103042882" "103042882" "subst" "0.285836" "02326" "PLP1_000002" "g.103042882T>C" "" "" "" "PLP1(NM_000533.5):c.609T>C (p.D203=), PLP1(NM_001128834.3):c.609T>C (p.D203=), RAB9B(NR_146560.2):n.718+4728A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103787953T>C" "" "benign" "" "0000301048" "0" "30" "X" "103045491" "103045491" "subst" "6.7196E-5" "02326" "PLP1_000030" "g.103045491G>A" "" "" "" "PLP1(NM_000533.5):c.799G>A (p.V267I), PLP1(NM_001128834.2):c.799G>A (p.V267I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103790563G>A" "" "likely benign" "" "0000305940" "0" "50" "X" "103042845" "103042845" "subst" "0" "01943" "PLP1_000027" "g.103042845G>T" "" "" "" "PLP1(NM_001128834.2):c.572G>T (p.S191I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103787916G>T" "" "VUS" "" "0000305941" "0" "30" "X" "103043447" "103043447" "subst" "0" "01943" "PLP1_000028" "g.103043447G>T" "" "" "" "PLP1(NM_000533.3):c.696+8G>T (p.(=)), PLP1(NM_001128834.2):c.696+8G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103788518G>T" "" "likely benign" "" "0000305942" "0" "30" "X" "103045491" "103045491" "subst" "6.7196E-5" "01943" "PLP1_000030" "g.103045491G>A" "" "" "" "PLP1(NM_000533.5):c.799G>A (p.V267I), PLP1(NM_001128834.2):c.799G>A (p.V267I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103790563G>A" "" "likely benign" "" "0000341886" "0" "90" "X" "103041611" "103041611" "subst" "0" "02327" "PLP1_000036" "g.103041611C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103786682C>G" "" "pathogenic" "" "0000342211" "0" "90" "X" "103042886" "103042886" "subst" "0" "02327" "PLP1_000038" "g.103042886A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103787957A>G" "" "pathogenic" "" "0000346782" "0" "30" "X" "103041396" "103041396" "subst" "5.59798E-6" "02327" "PLP1_000034" "g.103041396T>C" "" "" "" "PLP1(NM_000533.3):c.194T>C (p.(Ile65Thr)), PLP1(NM_001128834.2):c.194T>C (p.I65T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103786467T>C" "" "likely benign" "" "0000347184" "0" "70" "X" "103040643" "103040643" "subst" "0" "02327" "PLP1_000031" "g.103040643T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103785714T>C" "" "likely pathogenic" "" "0000347595" "0" "70" "X" "103040663" "103040663" "subst" "0" "02327" "PLP1_000032" "g.103040663A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103785734A>G" "" "likely pathogenic" "" "0000350009" "0" "50" "X" "103045479" "103045479" "subst" "0" "02327" "PLP1_000040" "g.103045479T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103790551T>C" "" "VUS" "" "0000350806" "0" "90" "X" "103040698" "103040698" "subst" "0" "02327" "PLP1_000033" "g.103040698G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103785769G>T" "" "pathogenic" "" "0000350807" "0" "90" "X" "103041659" "103041659" "subst" "0" "02327" "PLP1_000037" "g.103041659A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103786730A>G" "" "pathogenic" "" "0000350808" "0" "90" "X" "103045453" "103045453" "subst" "0" "02327" "PLP1_000039" "g.103045453A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103790525A>G" "" "pathogenic" "" "0000404879" "21" "90" "X" "103025229" "103042882" "del" "0" "02560" "PLP1_000043" "g.103025229_103042882del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.103770296_103787949del" "" "pathogenic" "" "0000404912" "21" "90" "X" "103042817" "103042817" "subst" "0" "00006" "PLP1_000044" "g.103042817A>C" "" "{PMID:Strautnieks 1992:1384324}" "" "541A>C (Thr181Pro)" "" "Germline" "yes" "" "0" "" "" "g.103787888A>C" "" "pathogenic" "" "0000404913" "21" "90" "X" "103043414" "103043414" "subst" "0" "00006" "PLP1_000045" "g.103043414T>C" "" "" "" "668T>C (Leu223Pro)" "" "Germline" "yes" "" "0" "" "" "g.103788485T>C" "" "pathogenic" "" "0000404914" "21" "90" "X" "0" "0" "" "0" "02560" "PLP1_000054" "g.(102870000_102882791)_(103174234_103180000)[3]" "" "{PMID:Martínez-Montero 2013:23347225}, {DOI:Martínez-Montero 2013:10.1111/cge.12103}" "" "" "291 kb triplication" "Germline" "" "" "0" "" "hg19 arr(102882791–103174234)x3" "" "" "pathogenic" "" "0000404915" "21" "90" "X" "0" "0" "" "0" "02560" "PLP1_000053" "g.(102810000_102825581)_(103329714_103340000)[2]" "" "{PMID:Martínez-Montero 2013:23347225}, {DOI:Martínez-Montero 2013:10.1111/cge.12103}" "" "" "504 kb duplication" "Germline" "" "" "0" "" "hg19 arr(102825581–103329714)x2" "" "" "pathogenic (recessive)" "" "0000404916" "21" "90" "X" "0" "0" "" "0" "02560" "PLP1_000053" "g.(102630000_102638387)_(10305750_103070000)[2]" "" "{PMID:Martínez-Montero 2013:23347225}, {DOI:Martínez-Montero 2013:10.1111/cge.12103}" "" "" "419 kb duplication" "Germline" "" "" "0" "" "hg19 arr(102638387–103057500)x2" "" "" "pathogenic (recessive)" "" "0000404917" "0" "90" "X" "0" "0" "" "0" "02560" "PLP1_000053" "g.(102020000_102039646)_(107209818_107220000)[2]" "" "{PMID:Martínez-Montero 2013:23347225}, {DOI:Martínez-Montero 2013:10.1111/cge.12103}" "" "" "5170 kb duplication" "De novo" "" "" "0" "" "hg19 arr(107209818–102039646)x2" "" "" "pathogenic (recessive)" "" "0000404918" "21" "90" "X" "0" "0" "" "0" "02560" "PLP1_000053" "g.(102728403_102728403)_(103305096_103305096)[2]" "" "{PMID:Martínez-Montero 2013:23347225}, {DOI:Martínez-Montero 2013:10.1111/cge.12103}" "" "" "576 kb duplication" "Germline" "" "" "0" "" "hg19 arr(102728403–103305096)x2" "" "" "pathogenic (recessive)" "" "0000404919" "21" "90" "X" "0" "0" "" "0" "02560" "PLP1_000053" "g.(102680000_102696732)_(103122533_103130000)[2]" "" "{PMID:Martínez-Montero 2013:23347225}, {DOI:Martínez-Montero 2013:10.1111/cge.12103}" "" "" "425 kb duplication" "Germline" "" "" "0" "" "hg19 arr(102696732–103122533)x2" "" "" "pathogenic (recessive)" "" "0000404920" "21" "90" "X" "0" "0" "" "0" "02560" "PLP1_000053" "g.(102150000_102159731)_(103353105_103360000)[2]" "" "{PMID:Martínez-Montero 2013:23347225}, {DOI:Martínez-Montero 2013:10.1111/cge.12103}" "" "" "1193 kb duplication" "Germline" "" "" "0" "" "hg19 arr(102159731–103353105)x2" "" "" "pathogenic (recessive)" "" "0000404921" "21" "90" "X" "0" "0" "" "0" "02560" "PLP1_000053" "g.(102880000_102895728)_(103077302_103090000)[2]" "" "{PMID:Martínez-Montero 2013:23347225}, {DOI:Martínez-Montero 2013:10.1111/cge.12103}" "" "" "182 kb duplication" "Germline" "" "" "0" "" "hg19 arr(102895728–103077302)x2" "" "" "pathogenic (recessive)" "" "0000404922" "21" "90" "X" "103043413" "103043413" "subst" "0" "02560" "PLP1_000077" "g.103043413C>T" "" "{PMID:Martínez-Montero 2013:23347225}, {DOI:Martínez-Montero 2013:10.1111/cge.12103}" "" "Leu224Phe" "" "Germline" "" "" "0" "" "" "g.103788484C>T" "" "pathogenic" "" "0000404923" "0" "90" "X" "103041440" "103041442" "del" "0" "02560" "PLP1_000048" "g.103041440_103041442del" "" "{PMID:Martínez-Montero 2013:23347225}, {DOI:Martínez-Montero 2013:10.1111/cge.12103}" "" "Phe79del" "" "De novo" "" "" "0" "" "" "g.103786511_103786513del" "" "pathogenic" "" "0000404924" "21" "90" "X" "103040604" "103040604" "subst" "0" "02560" "PLP1_000059" "g.103040604G>A" "" "{PMID:Martínez-Montero 2013:23347225}, {DOI:Martínez-Montero 2013:10.1111/cge.12103}" "" "Cys33Tyr" "" "Germline" "" "" "0" "" "" "g.103785675G>A" "" "pathogenic" "" "0000404925" "0" "90" "X" "103045483" "103045483" "subst" "0" "02560" "PLP1_000084" "g.103045483A>T" "" "{PMID:Martínez-Montero 2013:23347225}, {DOI:Martínez-Montero 2013:10.1111/cge.12103}" "" "Asn264Ile" "" "Unknown" "" "" "0" "" "" "g.103790555A>T" "" "pathogenic" "" "0000404926" "21" "90" "X" "103044332" "103044332" "subst" "0" "02560" "PLP1_000083" "g.103044332G>A" "" "{PMID:Martínez-Montero 2013:23347225}, {DOI:Martínez-Montero 2013:10.1111/cge.12103}" "" "" "" "Germline" "" "" "0" "" "" "g.103789403G>A" "" "pathogenic" "" "0000404927" "21" "90" "X" "103040598" "103040598" "subst" "0" "02560" "PLP1_000058" "g.103040598T>G" "" "{PMID:Martínez-Montero 2013:23347225}, {DOI:Martínez-Montero 2013:10.1111/cge.12103}" "" "Leu31Arg" "" "Germline" "" "" "0" "" "" "g.103785669T>G" "" "pathogenic" "" "0000404928" "0" "90" "X" "103041572" "103041576" "del" "0" "02560" "PLP1_000065" "g.103041572_103041576del" "" "{PMID:Martínez-Montero 2013:23347225}, {DOI:Martínez-Montero 2013:10.1111/cge.12103}" "" "364_368delAGGGG" "" "Unknown" "" "" "0" "" "" "g.103786643_103786647del" "" "pathogenic" "" "0000404929" "21" "90" "X" "103041422" "103041422" "subst" "0" "02560" "PLP1_000063" "g.103041422G>M" "" "{PMID:Martínez-Montero 2013:23347225}, {DOI:Martínez-Montero 2013:10.1111/cge.12103}" "" "Gly73Arg" "" "Germline" "" "" "0" "" "" "g.103786493G>M" "" "pathogenic" "" "0000404930" "21" "90" "X" "103040634" "103040634" "subst" "0" "02560" "PLP1_000047" "g.103040634C>T" "" "{PMID:Martínez-Montero 2013:23347225}, {DOI:Martínez-Montero 2013:10.1111/cge.12103}" "" "Thr43Ile" "" "Germline" "" "" "0" "" "" "g.103785705C>T" "" "pathogenic" "" "0000404931" "0" "70" "X" "103032005" "103032012" "del" "0" "02560" "PLP1_000057" "g.103032005_103032012del" "" "{PMID:Martínez-Montero 2013:23347225}, {DOI:Martínez-Montero 2013:10.1111/cge.12103}" "" "4+71delGGGGTTCG" "not in 100 controls" "Unknown" "" "" "0" "" "" "g.103777077_103777084del" "" "likely pathogenic" "" "0000404932" "21" "90" "X" "103042892" "103042892" "subst" "0" "02560" "PLP1_000074" "g.103042892T>C" "" "{PMID:Martínez-Montero 2013:23347225}, {DOI:Martínez-Montero 2013:10.1111/cge.12103}" "" "Tyr207His" "" "Germline" "" "" "0" "" "" "g.103787963T>C" "" "pathogenic" "" "0000404933" "0" "90" "X" "103040604" "103040604" "subst" "0" "00006" "PLP1_000059" "g.103040604G>A" "1/133 cases" "{PMID:Hübner 2005:15712223}" "" "" "" "Germline" "" "" "0" "" "" "g.103785675G>A" "" "pathogenic (recessive)" "" "0000404934" "0" "90" "X" "103040609" "103040609" "subst" "0" "00006" "PLP1_000060" "g.103040609T>C" "1/133 cases" "{PMID:Hübner 2005:15712223}" "" "" "" "Germline" "" "" "0" "" "" "g.103785680T>C" "" "pathogenic (recessive)" "" "0000404935" "0" "90" "X" "103040655" "103040655" "subst" "0" "00006" "PLP1_000052" "g.103040655A>G" "1/133 cases" "{PMID:Hübner 2005:15712223}" "" "" "" "Germline" "" "" "0" "" "" "g.103785726A>G" "" "pathogenic (recessive)" "" "0000404936" "0" "90" "X" "103041428" "103041428" "subst" "0" "00006" "PLP1_000064" "g.103041428G>C" "1/133 cases" "{PMID:Hübner 2005:15712223}" "" "" "" "Germline" "" "" "0" "" "" "g.103786499G>C" "" "pathogenic (recessive)" "" "0000404937" "0" "90" "X" "103041587" "103041587" "subst" "0" "00006" "PLP1_000066" "g.103041587C>T" "1/133 cases" "{PMID:Hübner 2005:15712223}" "" "" "" "Germline" "" "" "0" "" "" "g.103786658C>T" "" "pathogenic (recessive)" "" "0000404938" "0" "90" "X" "103041644" "103041644" "subst" "0" "00006" "PLP1_000067" "g.103041644C>T" "1/133 cases" "{PMID:Hübner 2005:15712223}" "" "" "" "Germline" "" "" "0" "" "" "g.103786715C>T" "" "pathogenic (recessive)" "" "0000404939" "0" "90" "X" "103042754" "103042755" "dup" "0" "00006" "PLP1_000070" "g.103042754_103042755dup" "1/133 cases" "{PMID:Hübner 2005:15712223}" "" "481_482dupGT" "" "Germline" "" "" "0" "" "" "g.103787825_103787826dup" "" "pathogenic (recessive)" "" "0000404940" "0" "90" "X" "103042758" "103042758" "subst" "0" "00006" "PLP1_000071" "g.103042758T>A" "1/133 cases" "{PMID:Hübner 2005:15712223}" "" "" "" "Germline" "" "" "0" "" "" "g.103787829T>A" "" "pathogenic (recessive)" "" "0000404941" "0" "90" "X" "103042781" "103042781" "subst" "0" "00006" "PLP1_000072" "g.103042781T>C" "1/133 cases" "{PMID:Hübner 2005:15712223}" "" "" "" "Germline" "" "" "0" "" "" "g.103787852T>C" "" "pathogenic (recessive)" "" "0000404942" "0" "90" "X" "103042790" "103042790" "subst" "0" "00006" "PLP1_000073" "g.103042790C>T" "1/133 cases" "{PMID:Hübner 2005:15712223}" "" "" "" "Germline" "" "" "0" "" "" "g.103787861C>T" "" "pathogenic (recessive)" "" "0000404943" "0" "90" "X" "103043375" "103043375" "del" "0" "00006" "PLP1_000076" "g.103043375del" "1/133 cases" "{PMID:Hübner 2005:15712223}" "" "630delC" "" "Germline" "" "" "0" "" "" "g.103788446del" "" "pathogenic (recessive)" "" "0000404944" "0" "90" "X" "103043417" "103043417" "subst" "0" "00006" "PLP1_000078" "g.103043417T>C" "1/133 cases" "{PMID:Hübner 2005:15712223}" "" "" "" "Germline" "" "" "0" "" "" 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PLP1 and RAB9B; break point sequenced, not shown" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000404970" "20" "90" "X" "103031923" "103080715" "del" "0" "00006" "PLP1_000046" "g.(103000000_103031923)_(103080715_103140000)del" "" "{PMID:Hübner 2005:15712223}" "" "" "115 kb deletion, incl. 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"g.(102693855_102793855)_(103193855_103293855)dup" "1/15 cases" "{PMID:Shimojima 2010:19328639}" "" "hg17 chrX:102500000-103100000" "374 kb duplication" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000404980" "0" "90" "X" "102793855" "103293855" "dup" "0" "00006" "PLP1_000053" "g.(102693855_102793855)_(103293855_103393855)dup" "1/15 cases" "{PMID:Shimojima 2010:19328639}" "" "hg17 chrX:102500000-103200000dup" "461 kb duplication" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000404981" "0" "90" "X" "102793855" "103593855" "dup" "0" "00006" "PLP1_000053" "g.(102693855_102793855)_(103593855_103693855)dup" "1/15 cases" "{PMID:Shimojima 2010:19328639}" "" "hg17 chrX:102500000-103500000dup" "676 kb duplication" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000404982" "0" "90" "X" "102593855" "103393855" "dup" "0" "00006" "PLP1_000053" "g.(102493855_102593855)_(103393855_103493855)dup" "1/15 cases" 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"PLP1_000087" "g.103031779A>G" "" "" "" "PLP1(NM_000533.3):c.-145A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103776851A>G" "" "VUS" "" "0000572753" "0" "30" "X" "103041396" "103041396" "subst" "5.59798E-6" "01804" "PLP1_000034" "g.103041396T>C" "" "" "" "PLP1(NM_000533.3):c.194T>C (p.(Ile65Thr)), PLP1(NM_001128834.2):c.194T>C (p.I65T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103786467T>C" "" "likely benign" "" "0000572754" "0" "90" "X" "103041637" "103041637" "subst" "0" "02327" "PLP1_000088" "g.103041637G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103786708G>A" "" "pathogenic" "" "0000572755" "0" "90" "X" "103041659" "103041659" "subst" "0" "02329" "PLP1_000089" "g.103041659A>T" "" "" "" "PLP1(NM_001128834.2):c.453+4A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103786730A>T" "" "pathogenic" "" 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PLP1(NM_001128834.2):c.696+8G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103788518G>T" "" "likely benign" "" "0000618728" "0" "50" "X" "103040646" "103040646" "subst" "0" "02327" "PLP1_000093" "g.103040646T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103785717T>C" "" "VUS" "" "0000663286" "0" "50" "X" "103040589" "103040589" "subst" "0" "01164" "PLP1_000094" "g.103040589G>A" "" "" "" "" "ACMG grading: PM2,PP3" "Germline" "" "" "0" "" "" "g.103785660G>A" "" "VUS" "ACMG" "0000667558" "21" "90" "X" "103041556" "103041557" "del" "0" "00006" "PLP1_000095" "g.103041556_103041557del" "" "{PMID:Helbig 2016:26795593}" "" "354_355delAG" "" "Germline" "" "" "0" "" "" "g.103786627_103786628del" "" "pathogenic (recessive)" "ACMG" "0000681991" "0" "30" "X" "103041398" "103041398" "subst" "0" "01943" "PLP1_000096" "g.103041398C>A" "" "" "" "PLP1(NM_001128834.2):c.196C>A (p.H66N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681992" "0" "30" "X" "103042852" "103042852" "subst" "1.12008E-5" "02326" "PLP1_000097" "g.103042852C>T" "" "" "" "PLP1(NM_000533.5):c.579C>T (p.T193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728275" "0" "30" "X" "103043435" "103043435" "subst" "1.11973E-5" "01943" "PLP1_000098" "g.103043435C>T" "" "" "" "PLP1(NM_001128834.2):c.692C>T (p.A231V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000787105" "0" "90" "X" "1" "103031924" "" "0" "00006" "PLP1_000099" "g.(?_103031924?_103045526_?)dup" "" "{PMID:Ganapathy 2019:31069529}" "" "chrX:103031924?_103045526+?dup" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000809739" "0" "50" "X" "103041396" "103041396" "subst" "5.59798E-6" "01943" "PLP1_000034" "g.103041396T>C" "" "" "" "PLP1(NM_000533.3):c.194T>C (p.(Ile65Thr)), PLP1(NM_001128834.2):c.194T>C (p.I65T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856240" "0" "30" "X" "103043394" "103043394" "subst" "0" "01943" "PLP1_000100" "g.103043394C>T" "" "" "" "PLP1(NM_001128834.2):c.651C>T (p.G217=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000904827" "20" "70" "X" "103043377" "103043377" "subst" "0" "00006" "PLP1_000101" "g.103043377T>C" "" "{PMID:Al-Kasbi 2022:36344539}" "" "" "" "Germline" "" "" "0" "" "" "g.103788448T>C" "VCV001410675.1" "likely pathogenic (recessive)" "" "0000908889" "0" "50" "X" "103042898" "103042898" "subst" "0" "00006" "PLP1_000102" "g.103042898G>C" "" "{PMID:Bournazos 2022:34906502}" "" "" "" "De novo" "" "" "0" "" "" "g.103787969G>C" "" "VUS" "" "0001006306" "0" "50" "X" "103045465" "103045465" "subst" "0" "01804" "PLP1_000103" "g.103045465T>C" "" "" "" "PLP1(NM_000533.3):c.773T>C (p.(Met258Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001011915" "0" "90" "X" "103041814" "103041814" "subst" "0" "00006" "PLP1_000104" "g.103041814G>A" "" "{PMID:Salinas 2020:33084218}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.103786885G>A" "RCV001007649.1" "pathogenic" "" "0001029872" "20" "70" "X" "103041567" "103041567" "del" "0" "01164" "PLP1_000105" "g.103041567del" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline" "?" "" "0" "" "" "g.103786638del" "" "likely pathogenic (recessive)" "ACMG" "0001044005" "0" "50" "X" "103029869" "103029869" "subst" "0" "01804" "PLP1_000106" "g.103029869G>C" "" "" "" "PLP1(NM_000533.5):c.-2055G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044006" "0" "50" "X" "103041629" "103041629" "subst" "0" "01804" "PLP1_000107" "g.103041629G>A" "" "" "" "PLP1(NM_000533.5):c.427G>A (p.(Gly143Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045304" "3" "90" "X" "103043393" "103043393" "subst" "0" "00006" "PLP1_000108" "g.103043393G>A" "" "{PMID:Alazami 2016:27023906}" "" "" "" "Germline" "" "" "0" "" "" "g.103788464G>A" "" "pathogenic (recessive)" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes PLP1 ## Count = 143 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000002082" "00000452" "50" "-221" "0" "-221" "0" "c.-221dup" "" "p.(=)" "" "0000002083" "00000452" "50" "1839" "0" "1839" "0" "c.*1005del" "r.(=)" "p.(=)" "" "0000003137" "00000452" "50" "-224" "0" "-223" "0" "c.-224_-223insG" "" "p.(=)" "" "0000003138" "00000452" "50" "1834" "0" "1834" "0" "c.*1000del" "r.(=)" "p.(=)" "" "0000007387" "00000452" "50" "5" "-344" "5" "-344" "c.5-344G>A" "r.(=)" "p.(=)" "" "0000007388" "00000452" "50" "5" "-111" "5" "-111" "c.5-111T>C" "r.(=)" "p.(=)" "" "0000007389" "00000452" "50" "696" "58" "696" "58" "c.696+58C>A" "r.(=)" "p.(=)" "" "0000009501" "00000452" "50" "-221" "0" "-221" "0" "c.-221dup" "" "p.(=)" "" "0000009502" "00000452" "50" "5" "-111" "5" "-111" "c.5-111T>C" "r.(=)" "p.(=)" "" "0000009503" "00000452" "50" "696" "58" "696" "58" "c.696+58C>A" "r.(=)" "p.(=)" "" "0000009504" "00000452" "50" "1839" "0" "1839" "0" "c.*1005del" "r.(=)" "p.(=)" "" "0000011119" "00000452" "50" "-224" "0" "-223" "0" "c.-224_-223insG" "" "p.(=)" "" "0000011120" "00000452" "50" "763" "-304" "763" "-304" "c.763-304dup" "r.(=)" "p.(=)" "" "0000011121" "00000452" "50" "1834" "0" "1834" "0" "c.*1000del" "r.(=)" "p.(=)" "" "0000011122" "00000452" "50" "2356" "0" "2356" "0" "c.*1522del" "r.(=)" "p.(=)" "" "0000015361" "00000452" "50" "5" "-411" "5" "-411" "c.5-411T>C" "r.(=)" "p.(=)" "" "0000015362" "00000452" "50" "5" "-344" "5" "-344" "c.5-344G>A" "r.(=)" "p.(=)" "" "0000194524" "00000452" "30" "459" "0" "459" "0" "c.459G>A" "r.(?)" "p.(=)" "" "0000194525" "00000452" "10" "609" "0" "609" "0" "c.609T>C" "r.(?)" "p.(=)" "" "0000194526" "00000452" "90" "454" "-322" "454" "-322" "c.454-322G>A" "r.[349_453del, =]" "p.[Val117_Lys151del, =]" "4i" "0000194527" "00000452" "90" "454" "-314" "454" "-314" "c.454-314T>A" "r.spl?" "p.(=)" "4i" "0000194528" "00000452" "90" "454" "-314" "454" "-314" "c.454-314T>G" "r.spl?" "p.(=)" "4i" "0000250491" "00000452" "70" "331" "0" "331" "0" "c.331A>C" "r.(?)" "p.(Lys111Gln)" "" "0000250505" "00000452" "70" "5" "-2" "5" "-2" "c.5-2A>G" "r.spl?" "p.?" "" "0000253671" "00000452" "10" "168" "0" "168" "0" "c.168A>G" "r.(?)" "p.(Gln56=)" "" "0000297136" "00000452" "30" "609" "0" "609" "0" "c.609T>C" "r.(?)" "p.(Asp203=)" "" "0000297137" "00000452" "30" "763" "-20" "763" "-20" "c.763-20C>A" "r.(=)" "p.(=)" "" "0000301044" "00000452" "30" "-31" "0" "-31" "0" "c.-31C>T" "r.(?)" "p.(=)" "" "0000301045" "00000452" "10" "-94" "0" "-94" "0" "c.-94G>A" "r.(?)" "p.(=)" "" "0000301046" "00000452" "30" "549" "0" "549" "0" "c.549C>A" "r.(?)" "p.(Thr183=)" "" "0000301047" "00000452" "10" "609" "0" "609" "0" "c.609T>C" "r.(?)" "p.(Asp203=)" "" "0000301048" "00000452" "30" "799" "0" "799" "0" "c.799G>A" "r.(?)" "p.(Val267Ile)" "" "0000305940" "00000452" "50" "572" "0" "572" "0" "c.572G>T" "r.(?)" "p.(Ser191Ile)" "" "0000305941" "00000452" "30" "696" "8" "696" "8" "c.696+8G>T" "r.(=)" "p.(=)" "" "0000305942" "00000452" "30" "799" "0" "799" "0" "c.799G>A" "r.(?)" "p.(Val267Ile)" "" "0000341886" "00000452" "90" "409" "0" "409" "0" "c.409C>G" "r.(?)" "p.(Arg137Gly)" "" "0000342211" "00000452" "90" "613" "0" "613" "0" "c.613A>G" "r.(?)" "p.(Arg205Gly)" "" "0000346782" "00000452" "30" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000347184" "00000452" "70" "137" "0" "137" "0" "c.137T>C" "r.(?)" "p.(Leu46Pro)" "" "0000347595" "00000452" "70" "157" "0" "157" "0" "c.157A>G" "r.(?)" "p.(Lys53Glu)" "" "0000350009" "00000452" "50" "787" "0" "787" "0" "c.787T>C" "r.(?)" "p.(Tyr263His)" "" "0000350806" "00000452" "90" "191" "1" "191" "1" "c.191+1G>T" "r.spl?" "p.?" "" "0000350807" "00000452" "90" "453" "4" "453" "4" "c.453+4A>G" "r.spl?" "p.?" "" "0000350808" "00000452" "90" "763" "-2" "763" "-2" "c.763-2A>G" "r.spl?" "p.?" "" "0000404879" "00000452" "90" "-6695" "0" "609" "0" "c.-6695_609del" "r.0?" "p.0?" "_1_4" "0000404912" "00000452" "90" "544" "0" "544" "0" "c.544A>C" "r.(?)" "p.(Thr182Pro)" "4" "0000404913" "00000452" "90" "671" "0" "671" "0" "c.671T>C" "r.(?)" "p.(Leu224Pro)" "5" "0000404914" "00000452" "90" "0" "0" "0" "0" "c.-1_*1[3]" "r.?" "p.?" "_1_7_" "0000404915" "00000452" "90" "0" "0" "0" "0" "c.-1_*1[2]" "r.?" "p.?" "_1_7_" "0000404916" "00000452" "90" "0" "0" "0" "0" "c.-1_*1[2]" "r.?" "p.?" "_1_7_" "0000404917" "00000452" "90" "0" "0" "0" "0" "c.-1_*1[2]" "r.?" "p.?" "_1_7_" "0000404918" "00000452" "90" "0" "0" "0" "0" "c.-1_*1[2]" "r.?" "p.?" "_1_7_" "0000404919" "00000452" "90" "0" "0" "0" "0" "c.-1_*1[2]" "r.?" "p.?" "_1_7_" "0000404920" "00000452" "90" "0" "0" "0" "0" "c.-1_*1[2]" "r.?" "p.?" "_1_7_" "0000404921" "00000452" "90" "0" "0" "0" "0" "c.-1_*1[2]" "r.?" "p.?" "_1_7_" "0000404922" "00000452" "90" "670" "0" "670" "0" "c.670C>T" "r.(?)" "p.(Leu224Phe)" "7" "0000404923" "00000452" "90" "238" "0" "240" "0" "c.238_240del" "r.(?)" "p.(Leu80del)" "3" "0000404924" "00000452" "90" "98" "0" "98" "0" "c.98G>A" "r.(?)" "p.(Cys33Tyr)" "3" "0000404925" "00000452" "90" "791" "0" "791" "0" "c.791A>T" "r.(?)" "p.(Asn264Ile)" "7" "0000404926" "00000452" "90" "762" "5" "762" "5" "c.762+5G>A" "r.spl?" "p.?" "7" "0000404927" "00000452" "90" "92" "0" "92" "0" "c.92T>G" "r.(?)" "p.(Leu31Arg)" "3" "0000404928" "00000452" "90" "370" "0" "374" "0" "c.370_374del" "r.(?)" "p.(Arg124Phefs*78)" "4" "0000404929" "00000452" "90" "220" "0" "220" "0" "c.220G>M" "r.(?)" "p.(Gly74Arg)" "3" "0000404930" "00000452" "90" "128" "0" "128" "0" "c.128C>T" "r.(?)" "p.(Thr43Ile)" "3" "0000404931" "00000452" "70" "4" "78" "4" "85" "c.4+78_4+85del" "r.spl?" "p.(=)" "1i" "0000404932" "00000452" "90" "619" "0" "619" "0" "c.619T>C" "r.(?)" "p.(Tyr207His)" "7" "0000404933" "00000452" "90" "98" "0" "98" "0" "c.98G>A" "r.(?)" "p.(Cys33Tyr)" "2" "0000404934" "00000452" "90" "103" "0" "103" "0" "c.103T>C" "r.(?)" "p.(Cys35Arg)" "2" "0000404935" "00000452" "90" "149" "0" "149" "0" "c.149A>G" "r.(?)" "p.(Tyr50Cys)" "2" "0000404936" "00000452" "90" "226" "0" "226" "0" "c.226G>C" "r.(?)" "p.(Ala76Pro)" "3" "0000404937" "00000452" "90" "385" "0" "385" "0" "c.385C>T" "r.(?)" "p.(Gln129*)" "3" "0000404938" "00000452" "90" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(His148Tyr)" "3" "0000404939" "00000452" "90" "481" "0" "482" "0" "c.481_482dup" "r.(?)" "p.(Val162Leufs*37)" "4" "0000404940" "00000452" "90" "485" "0" "485" "0" "c.485T>A" "r.(?)" "p.(Val162Glu)" "4" "0000404941" "00000452" "90" "508" "0" "508" "0" "c.508T>C" "r.(?)" "p.(Ser170Pro)" "4" "0000404942" "00000452" "90" "517" "0" "517" "0" "c.517C>T" "r.(?)" "p.(Pro173Ser)" "4" "0000404943" "00000452" "90" "632" "0" "632" "0" "c.632del" "r.(?)" "p.(Pro211Hisfs*25)" "5" "0000404944" "00000452" "90" "674" "0" "674" "0" "c.674T>C" "r.(?)" "p.(Leu225Pro)" "5" "0000404945" "00000452" "90" "716" "0" "716" "0" "c.716T>C" "r.(?)" "p.(Leu239Pro)" "6" "0000404946" "00000452" "90" "737" "0" "737" "0" "c.737G>C" "r.(?)" "p.(Gly246Ala)" "6" "0000404947" "00000452" "90" "762" "0" "762" "0" "c.762G>T" "r.spl?" "p.(Leu254=)" "6" "0000404948" "00000452" "90" "191" "3" "191" "3" "c.191+3A>T" "r.spl?" "p.?" "2i" "0000404949" "00000452" "90" "453" "7" "453" "7" "c.453+7A>G" "r.spl?" "p.(=)" "3i" "0000404950" "00000452" "90" "115" "0" "115" "0" "c.115G>A" "r.(?)" "p.(Ala39Thr)" "2" "0000404951" "00000452" "90" "137" "0" "137" "0" "c.137T>C" "r.(?)" "p.(Leu46Pro)" "2" "0000404952" "00000452" "90" "716" "0" "716" "0" "c.716T>C" "r.(?)" "p.(Leu239Pro)" "5" "0000404953" "00000452" "90" "696" "2" "696" "2" "c.696+2T>G" "r.spl?" "p.?" "5i" "0000404954" "00000452" "50" "-220" "0" "-210" "0" "c.-220_-210del" "r.(=)" "p.(=)" "_1" "0000404955" "00000452" "50" "622" "28" "622" "28" "c.622+28C>G" "r.(=)" "p.(=)" "4i" "0000404956" "00000452" "10" "-102" "0" "-102" "0" "c.-102C>T" "r.(=)" "p.(=)" "_1" "0000404957" "00000452" "90" "454" "-1" "622" "1" "c.(?_454-1)_(622+1_?)dup" "r.?" "p.?" "_4_" "0000404958" "00000452" "90" "454" "-1" "622" "1" "c.(?_454-1)_(622+1_?)dup" "r.?" "p.?" "_4_" "0000404959" "00000452" "90" "454" "-1" "622" "1" "c.(?_454-1)_(622+1_?)dup" "r.?" "p.?" "_4_" "0000404960" "00000452" "90" "454" "-1" "622" "1" "c.(?_454-1)_(622+1_?)dup" "r.?" "p.?" "_4_" "0000404961" "00000452" "90" "454" "-1" "622" "1" "c.(?_454-1)_(622+1_?)dup" "r.?" "p.?" "_4_" "0000404962" "00000452" "90" "454" "-1" "622" "1" "c.(?_454-1)_(622+1_?)dup" "r.?" "p.?" "_4_" "0000404963" "00000452" "90" "454" "-1" "622" "1" "c.(?_454-1)_(622+1_?)dup" "r.?" "p.?" "_4_" "0000404964" "00000452" "90" "454" "-1" "622" "1" "c.(?_454-1)_(622+1_?)dup" "r.?" "p.?" "_4_" "0000404965" "00000452" "90" "454" "-1" "622" "1" "c.(?_454-1)_(622+1_?)dup" "r.?" "p.?" "_4_" "0000404966" "00000452" "90" "454" "-1" "622" "1" "c.(?_454-1)_(622+1_?)dup" "r.?" "p.?" "_4_" "0000404967" "00000452" "90" "454" "-1" "622" "1" "c.(?_454-1)_(622+1_?)dup" "r.?" "p.?" "_4_" "0000404968" "00000452" "90" "454" "-1" "622" "1" "c.(?_454-1)_(622+1_?)dup" "r.?" "p.?" "_4_" "0000404969" "00000452" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_7_" "0000404970" "00000452" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_7_" "0000404971" "00000452" "90" "128" "0" "128" "0" "c.128C>T" "r.(?)" "p.(Thr43Ile)" "2" "0000404972" "00000452" "90" "128" "0" "128" "0" "c.128C>T" "r.(?)" "p.(Thr43Ile)" "2" "0000404974" "00000452" "90" "238" "0" "240" "0" "c.238_240del" "r.(?)" "p.(Phe80del)" "3" "0000404975" "00000452" "90" "454" "-1" "454" "-1" "c.454-1G>C" "r.spl" "p.?" "3i" "0000404976" "00000452" "90" "254" "0" "254" "0" "c.254T>C" "r.(?)" "p.(Leu85Pro)" "3" "0000404977" "00000452" "90" "247" "0" "247" "0" "c.247G>A" "r.(?)" "p.(Gly83Arg)" "3" "0000404978" "00000452" "90" "149" "0" "149" "0" "c.149A>G" "r.(?)" "p.(Tyr50Cys)" "2" "0000404979" "00000452" "90" "0" "0" "0" "0" "c.-1_*1[2]" "r.?" "p.?" "_1_7_" "0000404980" "00000452" "90" "0" "0" "0" "0" "c.-1_*1[2]" "r.?" "p.?" "_1_7_" "0000404981" "00000452" "90" "0" "0" "0" "0" "c.-1_*1[2]" "r.?" "p.?" "_1_7_" "0000404982" "00000452" "90" "0" "0" "0" "0" "c.-1_*1[2]" "r.?" "p.?" "_1_7_" "0000404983" "00000452" "90" "0" "0" "0" "0" "c.-1_*1[2]" "r.?" "p.?" "_1_7_" "0000454352" "00000452" "50" "125" "0" "125" "0" "c.125G>T" "r.(?)" "p.(Gly42Val)" "" "0000572750" "00000452" "10" "-221" "0" "-221" "0" "c.-221dup" "r.(?)" "p.(=)" "" "0000572752" "00000452" "50" "-145" "0" "-145" "0" "c.-145A>G" "r.(?)" "p.(=)" "" "0000572753" "00000452" "30" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000572754" "00000452" "90" "435" "0" "435" "0" "c.435G>A" "r.(?)" "p.(Trp145Ter)" "" "0000572755" "00000452" "90" "453" "4" "453" "4" "c.453+4A>T" "r.spl?" "p.?" "" "0000572756" "00000452" "30" "481" "0" "481" "0" "c.481G>A" "r.(?)" "p.(Val161Ile)" "" "0000572757" "00000452" "30" "564" "0" "564" "0" "c.564C>T" "r.(?)" "p.(Ala188=)" "" "0000572758" "00000452" "30" "594" "0" "594" "0" "c.594C>A" "r.(?)" "p.(Gly198=)" "" "0000572759" "00000452" "30" "696" "8" "696" "8" "c.696+8G>T" "r.(=)" "p.(=)" "" "0000618728" "00000452" "50" "140" "0" "140" "0" "c.140T>C" "r.(?)" "p.(Ile47Thr)" "" "0000663286" "00000452" "50" "83" "0" "83" "0" "c.83G>A" "r.(?)" "p.(Gly28Glu)" "" "0000667558" "00000452" "90" "354" "0" "355" "0" "c.354_355del" "r.(?)" "p.(Gly120Profs*83)" "" "0000681991" "00000452" "30" "196" "0" "196" "0" "c.196C>A" "r.(?)" "p.(His66Asn)" "" "0000681992" "00000452" "30" "579" "0" "579" "0" "c.579C>T" "r.(?)" "p.(Thr193=)" "" "0000728275" "00000452" "30" "692" "0" "692" "0" "c.692C>T" "r.(?)" "p.(Ala231Val)" "" "0000787105" "00000452" "90" "-1" "0" "835" "0" "c.(?_-1)_(*1_?)dup" "r.?" "p.?" "_1_7_" "0000809739" "00000452" "50" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000856240" "00000452" "30" "651" "0" "651" "0" "c.651C>T" "r.(?)" "p.(Gly217=)" "" "0000904827" "00000452" "70" "634" "0" "634" "0" "c.634T>C" "r.(?)" "p.(Trp212Arg)" "" "0000908889" "00000452" "50" "622" "3" "622" "3" "c.622+3G>C" "r.0?" "p.0?" "" "0001006306" "00000452" "50" "773" "0" "773" "0" "c.773T>C" "r.(?)" "p.(Met258Thr)" "" "0001011915" "00000452" "90" "453" "159" "453" "159" "c.453+159G>A" "r.spl" "p.?" "" "0001029872" "00000452" "70" "365" "0" "365" "0" "c.365del" "r.(?)" "p.(Lys122Argfs*25)" "3" "0001044005" "00000452" "50" "-2055" "0" "-2055" "0" "c.-2055G>C" "r.(?)" "p.(=)" "" "0001044006" "00000452" "50" "427" "0" "427" "0" "c.427G>A" "r.(?)" "p.(Gly143Arg)" "" "0001045304" "00000452" "90" "650" "0" "650" "0" "c.650G>A" "r.(?)" "p.(Gly217Asp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 103 "{{screeningid}}" "{{variantid}}" "0000000034" "0000404956" "0000000209" "0000002082" "0000000209" "0000002083" "0000000209" "0000003137" "0000000209" "0000003138" "0000000209" "0000007387" "0000000209" "0000007388" "0000000209" "0000007389" "0000000210" "0000009501" "0000000210" "0000009502" "0000000210" "0000009503" "0000000210" "0000009504" "0000000210" "0000011119" "0000000210" "0000011120" "0000000210" "0000011121" "0000000210" "0000011122" "0000000210" "0000015361" "0000000210" "0000015362" "0000118419" "0000194524" "0000118420" "0000194525" "0000118421" "0000194526" "0000118422" "0000194527" "0000118423" "0000194528" "0000181208" "0000404879" "0000181237" "0000404912" "0000181238" "0000404913" "0000181239" "0000404914" "0000181240" "0000404915" "0000181241" "0000404916" "0000181242" "0000404917" "0000181243" "0000404918" "0000181244" "0000404919" "0000181245" "0000404920" "0000181246" "0000404921" "0000181247" "0000404922" "0000181248" "0000404923" "0000181249" "0000404924" "0000181250" "0000404925" "0000181251" "0000404926" "0000181252" "0000404927" "0000181253" "0000404928" "0000181254" "0000404929" "0000181255" "0000404930" "0000181256" "0000404931" "0000181257" "0000404932" "0000181258" "0000404933" "0000181259" "0000404934" "0000181260" "0000404935" "0000181261" "0000404936" "0000181262" "0000404937" "0000181263" "0000404938" "0000181264" "0000404939" "0000181265" "0000404940" "0000181266" "0000404941" "0000181267" "0000404942" "0000181268" "0000404943" "0000181269" "0000404944" "0000181270" "0000404945" "0000181271" "0000404946" "0000181272" "0000404947" "0000181273" "0000404948" "0000181274" "0000404949" "0000181275" "0000404950" "0000181276" "0000404951" "0000181277" "0000404952" "0000181278" "0000404953" "0000181279" "0000404954" "0000181280" "0000404955" "0000181281" "0000404957" "0000181282" "0000404958" "0000181283" "0000404959" "0000181284" "0000404960" "0000181285" "0000404961" "0000181286" "0000404962" "0000181287" "0000404963" "0000181288" "0000404964" "0000181289" "0000404965" "0000181290" "0000404966" "0000181291" "0000404967" "0000181292" "0000404968" "0000181293" "0000404969" "0000181294" "0000404970" "0000181295" "0000404971" "0000181296" "0000404972" "0000181298" "0000404979" "0000181299" "0000404980" "0000181300" "0000404981" "0000181301" "0000404982" "0000181302" "0000404983" "0000181303" "0000404978" "0000181304" "0000404977" "0000181305" "0000404976" "0000181306" "0000404975" "0000181307" "0000404974" "0000219483" "0000454352" "0000300565" "0000663286" "0000304160" "0000667558" "0000375754" "0000787105" "0000427467" "0000904827" "0000429416" "0000908889" "0000457412" "0001011915" "0000466050" "0001029872" "0000467492" "0001045304"