### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DAP3) # 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}}" "DAP3" "death associated protein 3" "1" "q22" "unknown" "NC_000001.10" "UD_136072021668" "" "http://www.LOVD.nl/DAP3" "" "1" "2673" "7818" "602074" "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/DAP3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-01-06 10:13:13" "00000" "2025-05-05 21:14:00" ## 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}}" "00006092" "DAP3" "transcript variant 2" "005" "NM_004632.3" "" "NP_004623.1" "" "" "" "-88" "1965" "1197" "155658885" "155708801" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00616" "PRLTS" "Perrault syndrome" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-01-06 10:12:39" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "DAP3" "00616" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00459526" "" "" "" "1" "" "00006" "{PMID:Smith 2025:39701103}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat1" "00459527" "" "" "" "1" "" "00006" "{PMID:Smith 2025:39701103}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat2" "00459528" "" "" "" "1" "" "00006" "{PMID:Smith 2025:39701103}" "2-generation family, 1 affected, unaffected parents" "F" "" "Tajikistan" "" "0" "" "" "" "Pat3" "00459529" "" "" "" "1" "" "00006" "{PMID:Smith 2025:39701103}" "2-generation family, 1 affected, unaffected parents" "F" "yes" "Tunisia" "" "0" "" "" "" "Pat4" "00459530" "" "" "" "1" "" "00006" "{PMID:Smith 2025:39701103}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "India" "" "0" "" "" "" "Pat5" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00459526" "00616" "00459527" "00616" "00459528" "00616" "00459529" "00616" "00459530" "00616" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00616 ## Count = 5 "{{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}}" "0000347603" "00616" "00459526" "00006" "Familial, autosomal recessive" "48y" "see paper; ..., bilateral sensorineural hearing loss; severity profound; 48y-unilateral cochlear implant, previously bilateral hearing aids; primary ovarian insufficiency; primary amenorrhea; no lactic acidosis; no hypoglycemia; MRI brain normal; no epilepsy; no intellectual disability; no renal dysfunction; no retinopathy; no hepatomegaly; no transient liver failure; adult height 148cm" "" "12m" "" "" "" "" "" "" "Perrault-syndrome" "0000347604" "00616" "00459527" "00006" "Familial, autosomal recessive" "20y" "see paper; ..., bilateral sensorineural hearing loss; severity profound; bilateral hearing aids, 20y-bilateral cochlear implants; primary ovarian insufficiency; primary amenorrhea; childhood lactic acidosis; childhood hypoglycemia; MRI brain normal; no epilepsy; mild intellectual disability; no renal dysfunction; no retinopathy; no hepatomegaly; no transient liver failure" "" "4y" "" "" "" "" "" "" "Perrault-syndrome" "0000347605" "00616" "00459528" "00006" "Familial, autosomal recessive" "19y" "see paper; ..., bilateral sensorineural hearing loss; primary ovarian insufficiency; primary amenorrhea; mild intellectual disability; no renal dysfunction; no retinopathy; no hepatomegaly; no transient liver failure" "" "" "" "" "" "" "" "" "Perrault-syndrome" "0000347606" "00616" "00459529" "00006" "Familial, autosomal recessive" "8y" "see paper; ..., bilateral sensorineural hearing loss; severity profound; hearing aids; 2y-lactic acidosis; no hypoglycemia; MRI brain diffuse leukodystrophy; epilepsy; severe intellectual disability; proximal tubulopathy; retinopathy; hepatomegaly; transient liver failure; 8y-height 107cm" "" "8y" "" "" "" "" "" "" "Perrault-syndrome" "0000347607" "00616" "00459530" "00006" "Familial, autosomal recessive" "6m" "see paper; ..., lactic acidosis; MRI brain normal; epilepsy; no renal dysfunction; no retinopathy; hepatomegaly; transient liver failure; 6m-height 6 cm" "" "" "" "" "" "" "" "" "Perrault-syndrome" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000461152" "00459526" "1" "00006" "00006" "2025-01-08 10:12:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461153" "00459527" "1" "00006" "00006" "2025-01-08 10:12:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461154" "00459528" "1" "00006" "00006" "2025-01-08 10:12:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461155" "00459529" "1" "00006" "00006" "2025-01-08 10:12:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461156" "00459530" "1" "00006" "00006" "2025-01-08 10:12:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 17 "{{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}}" "0000256147" "0" "50" "1" "155698848" "155698848" "subst" "2.44192E-5" "01943" "DAP3_000002" "g.155698848A>C" "" "" "" "DAP3(NM_001199849.1):c.619A>C (p.K207Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155729057A>C" "" "VUS" "" "0000320093" "0" "50" "1" "155657965" "155657965" "subst" "0" "01943" "YY1AP1_000021" "g.155657965G>C" "" "" "" "YY1AP1(NM_001198903.1):c.291C>G (p.D97E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155688174G>C" "" "VUS" "" "0000716889" "0" "30" "1" "155686826" "155686826" "subst" "0.000117764" "01943" "DAP3_000001" "g.155686826G>T" "" "" "" "DAP3(NM_001199849.1):c.75G>T (p.G25=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928030" "0" "10" "1" "155657901" "155657901" "subst" "0.00688721" "02329" "YY1AP1_000024" "g.155657901A>G" "" "" "" "YY1AP1(NM_001198903.1):c.355T>C (p.S119P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000928031" "0" "50" "1" "155657947" "155657947" "del" "0" "02329" "YY1AP1_000025" "g.155657947del" "" "" "" "YY1AP1(NM_001198903.1):c.310delG (p.V104Wfs*35)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000946999" "0" "30" "1" "155657869" "155657869" "subst" "8.66671E-6" "02329" "YY1AP1_000026" "g.155657869G>A" "" "" "" "YY1AP1(NM_001198903.1):c.387C>T (p.L129=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947000" "0" "10" "1" "155657936" "155657936" "subst" "0.00918224" "02329" "YY1AP1_000027" "g.155657936C>T" "" "" "" "YY1AP1(NM_001198903.1):c.320G>A (p.(Gly107Glu), p.G107E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000973379" "0" "10" "1" "155657890" "155657890" "subst" "0.00459547" "02329" "YY1AP1_000028" "g.155657890A>G" "" "" "" "YY1AP1(NM_001198903.1):c.366T>C (p.C122=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001013217" "0" "30" "1" "155658060" "155658060" "subst" "0.000726332" "02329" "YY1AP1_000029" "g.155658060A>G" "" "" "" "YY1AP1(NM_001198903.1):c.196T>C (p.S66P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001020268" "21" "70" "1" "155708020" "155708020" "subst" "4.06223E-6" "00006" "DAP3_000007" "g.155708020G>A" "" "{PMID:Smith 2025:39701103}" "" "" "" "Germline" "" "" "0" "" "" "g.155738229G>A" "" "likely pathogenic (recessive)" "" "0001020269" "21" "70" "1" "155695733" "155695733" "subst" "4.06118E-6" "00006" "DAP3_000004" "g.155695733C>T" "" "{PMID:Smith 2025:39701103}" "" "" "" "Germline" "" "" "0" "" "" "g.155725942C>T" "" "likely pathogenic (recessive)" "" "0001020270" "3" "70" "1" "155708010" "155708010" "subst" "4.06197E-6" "00006" "DAP3_000006" "g.155708010G>A" "" "{PMID:Smith 2025:39701103}" "" "" "" "Germline" "" "" "0" "" "" "g.155738219G>A" "" "likely pathogenic (recessive)" "" "0001020271" "3" "70" "1" "155708010" "155708010" "subst" "4.06197E-6" "00006" "DAP3_000006" "g.155708010G>A" "" "{PMID:Smith 2025:39701103}" "" "" "" "Germline" "" "" "0" "" "" "g.155738219G>A" "" "likely pathogenic (recessive)" "" "0001020272" "3" "70" "1" "155707975" "155707975" "subst" "0" "00006" "DAP3_000005" "g.155707975T>G" "" "{PMID:Smith 2025:39701103}" "" "" "" "Germline" "" "" "0" "" "" "g.155738184T>G" "" "likely pathogenic (recessive)" "" "0001020273" "10" "70" "1" "155611487" "155747546" "del" "0" "00006" "DAP3_000003" "g.155611487_155747546del" "" "{PMID:Smith 2025:39701103}" "" "hg? del g.155641696-155777755" "135kb deletion incl. DAP3, YY1AP1, GON4L, MSTO2P" "Germline/De novo (untested)" "" "" "0" "" "" "g.155641696_155777755del" "SCV005423680" "likely pathogenic (recessive)" "" "0001020274" "11" "70" "1" "155611487" "155747546" "del" "0" "00006" "DAP3_000003" "g.155611487_155747546del" "" "{PMID:Smith 2025:39701103}" "" "hg? del g.155641696-155777755" "135kb deletion incl. DAP3, YY1AP1, GON4L, MSTO2P" "Germline" "" "" "0" "" "" "g.155641696_155777755del" "SCV005423680" "likely pathogenic (recessive)" "" "0001031351" "0" "30" "1" "155657936" "155657936" "subst" "0.00918224" "01804" "YY1AP1_000027" "g.155657936C>T" "" "" "" "YY1AP1(NM_001198903.1):c.320G>A (p.(Gly107Glu), p.G107E)" "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 DAP3 ## Count = 17 "{{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}}" "0000256147" "00006092" "50" "619" "0" "619" "0" "c.619A>C" "r.(?)" "p.(Lys207Gln)" "" "0000320093" "00006092" "50" "-1008" "0" "-1008" "0" "c.-1008G>C" "r.(?)" "p.(=)" "" "0000716889" "00006092" "30" "75" "0" "75" "0" "c.75G>T" "r.(?)" "p.(Gly25=)" "" "0000928030" "00006092" "10" "-1072" "0" "-1072" "0" "c.-1072A>G" "r.(?)" "p.(=)" "" "0000928031" "00006092" "50" "-1026" "0" "-1026" "0" "c.-1026del" "r.(?)" "p.(=)" "" "0000946999" "00006092" "30" "-1104" "0" "-1104" "0" "c.-1104G>A" "r.(?)" "p.(=)" "" "0000947000" "00006092" "10" "-1037" "0" "-1037" "0" "c.-1037C>T" "r.(?)" "p.(=)" "" "0000973379" "00006092" "10" "-1083" "0" "-1083" "0" "c.-1083A>G" "r.(?)" "p.(=)" "" "0001013217" "00006092" "30" "-913" "0" "-913" "0" "c.-913A>G" "r.(?)" "p.(=)" "" "0001020268" "00006092" "70" "1184" "0" "1184" "0" "c.1184G>A" "r.(?)" "p.(Cys395Tyr)" "" "0001020269" "00006092" "70" "395" "0" "395" "0" "c.395C>T" "r.(?)" "p.(Thr132Ile)" "" "0001020270" "00006092" "70" "1174" "0" "1174" "0" "c.1174G>A" "r.(?)" "p.(Glu392Lys)" "" "0001020271" "00006092" "70" "1174" "0" "1174" "0" "c.1174G>A" "r.(?)" "p.(Glu392Lys)" "" "0001020272" "00006092" "70" "1139" "0" "1139" "0" "c.1139T>G" "r.(?)" "p.(Leu380Arg)" "" "0001020273" "00006092" "70" "" "0" "" "0" "c.-47486_*39513del" "r.0" "p.0" "" "0001020274" "00006092" "70" "" "0" "" "0" "c.-47486_*39513del" "r.0" "p.0" "" "0001031351" "00006092" "30" "-1037" "0" "-1037" "0" "c.-1037C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000461152" "0001020268" "0000461152" "0001020273" "0000461153" "0001020269" "0000461153" "0001020274" "0000461154" "0001020270" "0000461155" "0001020271" "0000461156" "0001020272"