### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PEX11B) # 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}}" "PEX11B" "peroxisomal biogenesis factor 11 beta" "1" "q21" "unknown" "NC_000001.10" "UD_136090056832" "" "https://www.LOVD.nl/PEX11B" "" "1" "8853" "8799" "603867" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/PEX11B_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-01-16 11:36:12" "00000" "2023-01-11 15:44:22" ## 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}}" "00015991" "PEX11B" "transcript variant 1" "001" "NM_003846.2" "" "NP_003837.1" "" "" "" "-236" "1593" "780" "145516165" "145523732" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33" "01132" "PBD14B;PEX14B" "peroxisome biogenesis disorder, type 14B (PBD-14B, PEX-14B)" "AR" "614920" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05079" "PBD" "peroxisome biogenesis disorder (Zellweger syndrome)" "PG" "" "" "" "" "00006" "2015-09-25 13:40:55" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PEX11B" "00139" "PEX11B" "01132" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00081035" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00387703" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals, first cousin parents" "" "yes" "" "" "0" "" "" "Kurd" "M027" "00396461" "" "" "" "1" "" "00006" "{PMID:Ellingford 2017:28378820}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "15011450" "00399129" "" "" "" "1" "" "00006" "{PMID:Ebberink 2012:22581968}, {PMID:Berendse 2016:26287655}" "" "M" "no" "Netherlands" "" "0" "" "" "white" "patient;Pat4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00081035" "01132" "00387703" "00139" "00396461" "00296" "00399129" "05079" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00296, 01132, 05079 ## Count = 4 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000060604" "01132" "00081035" "01758" "Familial, autosomal recessive" "" "Peroxisome biogenesis disorder 14B (OMIM:614920)" "" "" "" "" "" "" "" "" "" "0000281271" "00139" "00387703" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, no microcephaly" "" "" "" "" "" "" "" "" "intellectual disability" "0000289622" "00296" "00396461" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "cataract" "0000292218" "05079" "00399129" "00006" "Familial, autosomal recessive" "26y" "see paper; ..." "" "" "" "" "" "" "" "PBD14" "Zellweger spectrum disorder" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081147" "00081035" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000388934" "00387703" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000397701" "00396461" "1" "00006" "00006" "2021-12-15 16:38:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000400374" "00399129" "1" "00006" "00006" "2022-01-16 12:01:47" "" "" "SEQ;SEQ-NG" "DNA" "" "17-gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000081147" "PEX11B" "0000388934" "PEX11B" "0000400374" "PEX11B" ## 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 = 12 "{{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}}" "0000130233" "3" "70" "1" "145517364" "145517365" "del" "0" "01758" "PEX11B_000001" "g.145517364_145517365del" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.145917724_145917725del" "" "likely pathogenic" "ACMG" "0000320949" "0" "50" "1" "145516416" "145516416" "subst" "0" "01804" "PEX11B_000002" "g.145516416C>T" "" "" "" "PEX11B(NM_001184795.1):c.-228C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.145918673G>A" "" "VUS" "" "0000320950" "0" "50" "1" "145518169" "145518169" "subst" "0" "01804" "PEX11B_000003" "g.145518169C>G" "" "" "" "PEX11B(NM_001184795.1):c.229C>G (p.(Leu77Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.145916920G>C" "" "VUS" "" "0000320951" "0" "30" "1" "145528280" "145528280" "subst" "0.0000162569" "01804" "ITGA10_000002" "g.145528280C>T" "" "" "" "ITGA10(NM_003637.3):c.301C>T (p.(His101Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.145906796G>A" "" "likely benign" "" "0000344668" "0" "90" "1" "145517280" "145517280" "subst" "0" "02327" "PEX11B_000004" "g.145517280C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.145917809G>A" "" "pathogenic" "" "0000502986" "0" "30" "1" "145517353" "145517353" "subst" "0.0000121819" "01943" "PEX11B_000006" "g.145517353G>A" "" "" "" "PEX11B(NM_003846.2):c.137G>A (p.R46Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.145917736C>T" "" "likely benign" "" "0000502987" "0" "30" "1" "145518136" "145518136" "subst" "0.000129939" "01943" "PEX11B_000007" "g.145518136G>A" "" "" "" "PEX11B(NM_003846.2):c.238G>A (p.V80I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.145916953C>T" "" "likely benign" "" "0000817727" "3" "90" "1" "145522663" "145522663" "del" "0" "00006" "PEX11B_000008" "g.145522663del" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.145912421del" "" "pathogenic (recessive)" "ACMG" "0000829764" "1" "70" "1" "145516400" "145518273" "del" "0" "00006" "PEX11B_000009" "g.(?_145516400)_(145518273_145522513)del" "" "{PMID:Ellingford 2017:28378820}" "" "g.145516396_145518277del" "" "Germline" "" "" "0" "" "" "g.(?_145918689)_(145912567_145916816)del" "" "likely pathogenic" "" "0000833218" "3" "90" "1" "145517280" "145517280" "subst" "0" "00006" "PEX11B_000004" "g.145517280C>T" "" "{PMID:Ebberink 2012:22581968}" "" "" "" "Germline" "" "" "0" "" "" "g.145917809G>A" "" "pathogenic (recessive)" "" "0000848279" "0" "90" "1" "145516654" "145516655" "del" "0.000161583" "02325" "PEX11B_000010" "g.145516654_145516655del" "" "" "" "PEX11B(NM_001184795.1):c.11_12delTG (p.L4Qfs*22)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000910768" "0" "50" "1" "145522905" "145522905" "subst" "0.0000673826" "02327" "ITGA10_000011" "g.145522905C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 PEX11B ## Count = 12 "{{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}}" "0000130233" "00015991" "70" "148" "0" "149" "0" "c.148_149del" "r.(?)" "p.(Ser50Profs*13)" "" "0000320949" "00015991" "50" "16" "0" "16" "0" "c.16C>T" "r.(?)" "p.(Arg6Cys)" "" "0000320950" "00015991" "50" "271" "0" "271" "0" "c.271C>G" "r.(?)" "p.(Leu91Val)" "" "0000320951" "00015991" "30" "6141" "0" "6141" "0" "c.*5361C>T" "r.(=)" "p.(=)" "" "0000344668" "00015991" "90" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Gln22Ter)" "" "0000502986" "00015991" "30" "137" "0" "137" "0" "c.137G>A" "r.(?)" "p.(Arg46Gln)" "" "0000502987" "00015991" "30" "238" "0" "238" "0" "c.238G>A" "r.(?)" "p.(Val80Ile)" "" "0000817727" "00015991" "90" "524" "0" "524" "0" "c.524del" "r.(?)" "p.(Gly175AspfsTer14)" "" "0000829764" "00015991" "70" "-1" "0" "374" "1" "c.(?_-1)_(374+1_375-1)del" "r.0?" "p.0?" "" "0000833218" "00015991" "90" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Gln22Ter)" "" "0000848279" "00015991" "90" "56" "198" "56" "199" "c.56+198_56+199del" "r.(=)" "p.(=)" "" "0000910768" "00015991" "50" "766" "0" "766" "0" "c.766C>T" "r.(?)" "p.(Arg256*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000081147" "0000130233" "0000388934" "0000817727" "0000397701" "0000829764" "0000400374" "0000833218"