### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PPEF1) # 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}}" "PPEF1" "protein phosphatase, EF-hand calcium binding domain 1" "X" "p22" "unknown" "NC_000023.10" "UD_132118976972" "" "https://www.LOVD.nl/PPEF1" "" "1" "9243" "5475" "300109" "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/PPEF1_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2021-12-10 17:35:46" "00006" "2021-12-10 17:47:06" ## 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}}" "00000635" "PPEF1" "transcript variant 1" "001" "NM_006240.2" "" "NP_006231.2" "" "" "" "-481" "2392" "1962" "18709045" "18846035" "00000" "2012-09-13 12:41:53" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02262" "RS1" "retinoschisis, type 1, X-linked (RS-1)" "XLR" "312700" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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}}" "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" "" "" "" "" "00087273" "" "" "" "2" "" "00006" "{PMID:Huopaniemi 2000:11013441}" "family, 2 affected sibs" "M" "no" "Denmark" "" "0" "" "" "" "FamRS315" "00173510" "" "" "" "17" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00087273" "02262" "00173510" "00187" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 01157, 02262 ## Count = 4 "{{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/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "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" "" "" "" "" "" "" "" "0000066810" "02262" "00087273" "00006" "Familial, X-linked recessive" "" "typical X-linked juvenile retinoschisis; one patient had undergone asphyxia during neonatal age, suffers from mild hemiplegia, epilepsy, scar in one hemispheres" "" "" "" "" "" "" "" "" "RS1" "retinoschisis" "0000138374" "00187" "00173510" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" ## 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}}" "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" "" "" "0000087413" "00087273" "1" "00006" "00006" "2008-01-22 12:32:06" "00006" "2013-01-02 14:09:13" "PCR;Southern" "DNA" "" "" "0000174393" "00173510" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000087413" "RS1" "0000174393" "CT45A5" ## 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 = 29 "{{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}}" "0000001818" "0" "50" "X" "18779859" "18779859" "dup" "0" "00037" "PPEF1_000004" "g.18779859dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.18761741dup" "" "VUS" "" "0000001819" "0" "50" "X" "18801843" "18801843" "dup" "0" "00037" "PPEF1_000011" "g.18801843dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.18783725dup" "" "VUS" "" "0000001820" "0" "50" "X" "18801842" "18801843" "dup" "0" "00037" "PPEF1_000013" "g.18801842_18801843dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.18783724_18783725dup" "" "VUS" "" "0000002823" "0" "50" "X" "18767895" "18767895" "dup" "0" "00037" "PPEF1_000025" "g.18767895dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.18749777dup" "" "VUS" "" "0000002824" "0" "50" "X" "18779859" "18779859" "dup" "0" "00037" "PPEF1_000022" "g.18779859dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.18761741dup" "" "VUS" "" "0000002825" "0" "50" "X" "18800531" "18800531" "del" "0" "00037" "PPEF1_000018" "g.18800531del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.18782413del" "" "VUS" "" "0000002826" "0" "50" "X" "18800531" "18800532" "del" "0" "00037" "PPEF1_000020" "g.18800531_18800532del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.18782413_18782414del" "" "VUS" "" "0000002827" "0" "50" "X" "18801843" "18801843" "dup" "0" "00037" "PPEF1_000023" "g.18801843dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.18783725dup" "" "VUS" "" "0000002828" "0" "50" "X" "18801842" "18801843" "dup" "0" "00037" "PPEF1_000024" "g.18801842_18801843dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.18783724_18783725dup" "" "VUS" "" "0000006453" "0" "50" "X" "18718388" "18718388" "subst" "0" "00037" "PPEF1_000016" "g.18718388G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.18700269G>T" "" "VUS" "" "0000006454" "20" "50" "X" "18779721" "18779721" "subst" "0.486027" "00037" "PPEF1_000001" "g.18779721A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.18761603A>G" "" "VUS" "" "0000006455" "20" "50" "X" "18779939" "18779939" "subst" "0" "00037" "PPEF1_000006" "g.18779939A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.18761821A>G" "" "VUS" "" "0000008503" "0" "50" "X" "18718392" "18718401" "del" "0" "00037" "PPEF1_000015" "g.18718392_18718401del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.18700273_18700282del" "" "VUS" "" "0000008504" "0" "50" "X" "18718388" "18718401" "del" "0" "00037" "PPEF1_000017" "g.18718388_18718401del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.18700269_18700282del" "" "VUS" "" "0000008505" "20" "50" "X" "18779721" "18779721" "subst" "0.486027" "00037" "PPEF1_000001" "g.18779721A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.18761603A>G" "" "VUS" "" "0000008506" "0" "50" "X" "18779859" "18779859" "dup" "0" "00037" "PPEF1_000004" "g.18779859dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.18761741dup" "" "VUS" "" "0000008507" "0" "50" "X" "18801843" "18801843" "dup" "0" "00037" "PPEF1_000011" "g.18801843dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.18783725dup" "" "VUS" "" "0000008508" "0" "50" "X" "18801842" "18801843" "dup" "0" "00037" "PPEF1_000013" "g.18801842_18801843dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.18783724_18783725dup" "" "VUS" "" "0000010827" "0" "50" "X" "18800531" "18800531" "del" "0" "00037" "PPEF1_000018" "g.18800531del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.18782413del" "" "VUS" "" "0000010828" "0" "50" "X" "18800531" "18800532" "del" "0" "00037" "PPEF1_000020" "g.18800531_18800532del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.18782413_18782414del" "" "VUS" "" "0000140783" "21" "90" "X" "18670113" "18788411" "del" "0" "00006" "RS1_000123" "g.(18665453_18674772)_(18779695_18797127)del" "" "{PMID:Huopaniemi:11013441}" "" "" "136 kb deletion from PPEF intron 9 to RS1 intron 3 also involving CDKL5 (STK9)" "Germline" "yes" "" "0" "" "" "g.(18647333_18656652)_(18761577_18779009)del" "" "pathogenic (recessive)" "" "0000306227" "0" "30" "X" "18824656" "18824656" "subst" "0.0000172217" "01943" "PPEF1_000029" "g.18824656C>T" "" "" "" "PPEF1(NM_006240.2):c.1387C>T (p.R463C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18806538C>T" "" "likely benign" "" "0000333329" "0" "30" "X" "18775737" "18775737" "subst" "0.000103401" "01804" "PPEF1_000026" "g.18775737G>A" "" "" "" "PPEF1(NM_006240.2):c.397-8G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18757619G>A" "" "likely benign" "" "0000333331" "0" "50" "X" "18802071" "18802071" "subst" "0.00234298" "01804" "PPEF1_000028" "g.18802071A>G" "" "" "" "PPEF1(NM_006240.2):c.817A>G (p.(Ile273Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18783953A>G" "" "VUS" "" "0000401251" "1" "50" "X" "18824596" "18824596" "subst" "0.0465383" "00124" "PPEF1_000030" "g.18824596G>A" "17/208 cases" "{PMID:Tarpey 2009:19377476}" "" "G443S" "recurrent, found 17 times" "Germline" "" "" "0" "" "" "g.18806478G>A" "" "VUS" "" "0000575163" "0" "30" "X" "18807263" "18807263" "subst" "0" "01943" "PPEF1_000031" "g.18807263A>G" "" "" "" "PPEF1(NM_006240.2):c.937A>G (p.T313A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18789145A>G" "" "likely benign" "" "0000575164" "0" "30" "X" "18842119" "18842119" "subst" "0.0000450154" "01804" "PPEF1_000032" "g.18842119C>T" "" "" "" "PPEF1(NM_006240.2):c.1580C>T (p.(Ser527Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18824001C>T" "" "likely benign" "" "0000659234" "0" "30" "X" "18822048" "18822048" "subst" "0" "01943" "PPEF1_000033" "g.18822048T>C" "" "" "" "PPEF1(NM_006240.2):c.1104T>C (p.N368=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18803930T>C" "" "likely benign" "" "0000682324" "0" "30" "X" "18807265" "18807265" "subst" "0.0000224281" "01943" "PPEF1_000034" "g.18807265G>A" "" "" "" "PPEF1(NM_006240.2):c.939G>A (p.T313=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 PPEF1 ## Count = 29 "{{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}}" "0000001818" "00000635" "50" "558" "165" "558" "165" "c.558+165dup" "r.(=)" "p.(=)" "" "0000001819" "00000635" "50" "763" "-174" "763" "-174" "c.763-174dup" "r.(=)" "p.(=)" "" "0000001820" "00000635" "50" "763" "-175" "763" "-174" "c.763-175_763-174dup" "r.(=)" "p.(=)" "" "0000002823" "00000635" "50" "236" "-15" "236" "-15" "c.236-15dup" "r.(=)" "p.(=)" "" "0000002824" "00000635" "50" "558" "165" "558" "165" "c.558+165dup" "r.(=)" "p.(=)" "" "0000002825" "00000635" "50" "762" "11" "762" "11" "c.762+11del" "r.(=)" "p.(=)" "" "0000002826" "00000635" "50" "762" "11" "762" "12" "c.762+11_762+12del" "r.(=)" "p.(=)" "" "0000002827" "00000635" "50" "763" "-174" "763" "-174" "c.763-174dup" "r.(=)" "p.(=)" "" "0000002828" "00000635" "50" "763" "-175" "763" "-174" "c.763-175_763-174dup" "r.(=)" "p.(=)" "" "0000006453" "00000635" "50" "-225" "-64" "-225" "-64" "c.-225-64G>T" "r.(=)" "p.(=)" "" "0000006454" "00000635" "50" "558" "27" "558" "27" "c.558+27A>G" "r.(=)" "p.(=)" "" "0000006455" "00000635" "50" "558" "245" "558" "245" "c.558+245A>G" "r.(=)" "p.(=)" "" "0000008503" "00000635" "50" "-225" "-60" "-225" "-51" "c.-225-60_-225-51del" "r.(=)" "p.(=)" "" "0000008504" "00000635" "50" "-225" "-64" "-225" "-51" "c.-225-64_-225-51del" "r.(=)" "p.(=)" "" "0000008505" "00000635" "50" "558" "27" "558" "27" "c.558+27A>G" "r.(=)" "p.(=)" "" "0000008506" "00000635" "50" "558" "165" "558" "165" "c.558+165dup" "r.(=)" "p.(=)" "" "0000008507" "00000635" "50" "763" "-174" "763" "-174" "c.763-174dup" "r.(=)" "p.(=)" "" "0000008508" "00000635" "50" "763" "-175" "763" "-174" "c.763-175_763-174dup" "r.(=)" "p.(=)" "" "0000010827" "00000635" "50" "762" "11" "762" "11" "c.762+11del" "r.(=)" "p.(=)" "" "0000010828" "00000635" "50" "762" "11" "762" "12" "c.762+11_762+12del" "r.(=)" "p.(=)" "" "0000140783" "00000635" "90" "0" "0" "0" "0" "c.-481_(558+1_559-1){0}" "r.0" "p.0" "_1_9i" "0000306227" "00000635" "30" "1387" "0" "1387" "0" "c.1387C>T" "r.(?)" "p.(Arg463Cys)" "" "0000333329" "00000635" "30" "397" "-8" "397" "-8" "c.397-8G>A" "r.(=)" "p.(=)" "" "0000333331" "00000635" "50" "817" "0" "817" "0" "c.817A>G" "r.(?)" "p.(Ile273Val)" "" "0000401251" "00000635" "50" "1327" "0" "1327" "0" "c.1327G>A" "r.(?)" "p.(Gly443Ser)" "16" "0000575163" "00000635" "30" "937" "0" "937" "0" "c.937A>G" "r.(?)" "p.(Thr313Ala)" "" "0000575164" "00000635" "30" "1580" "0" "1580" "0" "c.1580C>T" "r.(?)" "p.(Ser527Leu)" "" "0000659234" "00000635" "30" "1104" "0" "1104" "0" "c.1104T>C" "r.(?)" "p.(Asn368=)" "" "0000682324" "00000635" "30" "939" "0" "939" "0" "c.939G>A" "r.(?)" "p.(Thr313=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{variantid}}" "0000000209" "0000001818" "0000000209" "0000001819" "0000000209" "0000001820" "0000000209" "0000002823" "0000000209" "0000002824" "0000000209" "0000002825" "0000000209" "0000002826" "0000000209" "0000002827" "0000000209" "0000002828" "0000000209" "0000006453" "0000000209" "0000006454" "0000000209" "0000006455" "0000000210" "0000008503" "0000000210" "0000008504" "0000000210" "0000008505" "0000000210" "0000008506" "0000000210" "0000008507" "0000000210" "0000008508" "0000000210" "0000010827" "0000000210" "0000010828" "0000087413" "0000140783" "0000174393" "0000401251"