### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PIGQ) # 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}}" "PIGQ" "phosphatidylinositol glycan anchor biosynthesis, class Q" "16" "p13.3" "unknown" "NC_000016.9" "UD_136018169464" "" "" "" "1" "14135" "9091" "605754" "1" "1" "1" "1" "" "" "" "" "1" "" "" "0" "" "0" "00001" "2013-05-03 00:00:00" "00081" "2018-12-31 00:39:30" "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}}" "00016156" "PIGQ" "transcript variant 2" "001" "NM_004204.3" "" "NP_004195.2" "" "" "" "-138" "2847" "1746" "619968" "634136" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "02515" "EDSFS" "dysplasia, ectodermal, skin fragility syndrome" "AR" "604536" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04247" "EIEEx" "encephalopathy, epileptic, early infantile, with suppression-bursts, Ohtahara syndrome" "" "" "" "" "" "00081" "2015-05-01 23:56:51" "00006" "2021-12-11 13:56:28" "05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06318" "EIEE77" "Epileptic encephalopathy, early infantile, 77" "AR" "618548" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PIGQ" "04247" "PIGQ" "06318" ## 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}}" "00037749" "" "" "" "1" "" "00081" "{PMID:Martin HC et al 2014:24463883}" "Early-onset epilepsy with a burst-suppression EEG, consistent with Otahara syndrome." "M" "?" "" "" "0" "" "" "Western African" "" "00207331" "" "" "" "1" "" "00081" "{PMID:Alazami et al. 2015:25558065}" "" "" "yes" "" "" "0" "" "" "" "12DG0223" "00361565" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "12DG0223" "00380382" "" "" "" "1" "" "00006" "{PMID:Stoltz 2021:34375587}" "" "M" "" "" "" "0" "" "" "" "A657T.3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00037749" "02515" "00207331" "05162" "00361565" "00139" "00380382" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 02515, 04247, 05162, 05611, 06318 ## Count = 3 "{{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}}" "0000155113" "05162" "00207331" "00081" "Familial, autosomal recessive" "" "Intractable seizure, developmental delay, and optic atrophy" "" "" "" "" "" "" "" "" "" "0000256970" "00139" "00361565" "00006" "Familial, autosomal recessive" "9y" "not syndromic; global developmental delay, seizures, optic atrophy" "" "" "" "" "" "" "" "" "intellectual disability" "0000274233" "05611" "00380382" "00006" "Isolated (sporadic)" "13y" "intellectual disability, developmental delay; uncoordinated gait; no hypotonia; no hypertonia; hypermetropia astigmatism; no seizures; normal myelination" "" "" "" "" "" "" "" "" "neurodevelopmental delay" ## 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}}" "0000037982" "00037749" "1" "00081" "00081" "2015-05-01 23:46:47" "" "" "SEQ-NG" "DNA" "" "" "0000208367" "00207331" "1" "00081" "00081" "2018-11-19 23:59:24" "" "" "SEQ-NG" "DNA" "" "WES" "0000362793" "00361565" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000381596" "00380382" "1" "00006" "00006" "2021-08-13 20:56:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000037982" "PIGQ" "0000362793" "PIGQ" ## 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 = 19 "{{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}}" "0000065291" "3" "77" "16" "625837" "625837" "subst" "0" "00081" "PIGQ_000001" "g.625837A>G" "" "{PMID:Martin HC et al 2014:24463883}" "" "" "Patient deceased but deletion of exon 3 detected in some RNA species in parental blood, consistent with predicted exon skipping effect of variant." "Germline" "yes" "" "0" "" "" "g.575837A>G" "" "likely pathogenic" "" "0000438201" "0" "77" "16" "624693" "624693" "subst" "0" "00081" "PIGQ_000003" "g.624693C>T" "" "{PMID:Alazami et al. 2015:25558065}" "" "" "" "De novo" "" "" "0" "" "" "g.574693C>T" "" "likely pathogenic" "" "0000558687" "0" "50" "16" "624625" "624625" "del" "0" "01943" "PIGQ_000004" "g.624625del" "" "" "" "PIGQ(NM_004204.3):c.551delG (p.G184Afs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.574625del" "" "VUS" "" "0000558688" "0" "10" "16" "626161" "626161" "subst" "0.00222019" "01943" "PIGQ_000005" "g.626161G>T" "" "" "" "PIGQ(NM_004204.3):c.849G>T (p.L283=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.576161G>T" "" "benign" "" "0000558689" "0" "50" "16" "626237" "626237" "subst" "0.00109364" "01943" "PIGQ_000006" "g.626237C>G" "" "" "" "PIGQ(NM_004204.3):c.925C>G (p.L309V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.576237C>G" "" "VUS" "" "0000558690" "0" "30" "16" "628924" "628924" "subst" "0.000497967" "01943" "PIGQ_000007" "g.628924C>T" "" "" "" "PIGQ(NM_004204.3):c.1209C>T (p.Y403=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.578924C>T" "" "likely benign" "" "0000558691" "0" "30" "16" "630270" "630270" "subst" "0" "01804" "PIGQ_000008" "g.630270T>C" "" "" "" "PIGQ(NM_004204.3):c.1416+7T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.580270T>C" "" "likely benign" "" "0000725889" "0" "30" "16" "624424" "624424" "subst" "0.0040839" "01943" "NHLRC4_000001" "g.624424C>T" "" "" "" "PIGQ(NM_004204.3):c.350C>T (p.A117V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725890" "0" "30" "16" "624503" "624503" "subst" "0.000232397" "01943" "PIGQ_000009" "g.624503G>A" "" "" "" "PIGQ(NM_004204.3):c.429G>A (p.L143=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000763167" "3" "90" "16" "624693" "624693" "subst" "0" "00006" "PIGQ_000003" "g.624693C>T" "" "{PMID:Anazi 2017:27431290}" "" "" "ACMG PVS1, PM2, PP1" "Germline" "" "" "0" "" "" "g.574693C>T" "" "pathogenic" "ACMG" "0000795086" "0" "50" "16" "624231" "624231" "subst" "1.66729E-5" "00006" "PIGQ_000010" "g.624231C>T" "" "{PMID:Stoltz 2021:34375587}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000807499" "0" "50" "16" "630192" "630192" "subst" "8.17842E-6" "02325" "PIGQ_000011" "g.630192G>A" "" "" "" "PIGQ(NM_004204.5):c.1345G>A (p.G449R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854577" "0" "30" "16" "624108" "624108" "subst" "0.000776314" "01943" "NHLRC4_000002" "g.624108G>A" "" "" "" "PIGQ(NM_004204.3):c.34G>A (p.V12I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914661" "0" "30" "16" "630946" "630946" "subst" "0.00103462" "02325" "PIGQ_000012" "g.630946G>A" "" "" "" "PIGQ(NM_004204.5):c.1505G>A (p.R502Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981983" "0" "50" "16" "633386" "633386" "subst" "0.000183658" "01804" "PIGQ_000013" "g.633386C>T" "" "" "" "PIGQ(NM_148920.4):c.2035C>T (p.(Gln679*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981984" "0" "50" "16" "633634" "633634" "subst" "8.97205E-5" "01804" "PIGQ_000014" "g.633634A>G" "" "" "" "PIGQ(NM_148920.4):c.2283A>G (p.(Ter761TrpextTer27))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041236" "0" "50" "16" "624474" "624474" "subst" "0.000118983" "01804" "NHLRC4_000003" "g.624474C>T" "" "" "" "PIGQ(NM_004204.5):c.400C>T (p.(Arg134Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041237" "0" "70" "16" "624492" "624492" "subst" "4.29115E-6" "01804" "NHLRC4_000004" "g.624492C>T" "" "" "" "PIGQ(NM_004204.5):c.418C>T (p.(Gln140Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001041238" "0" "50" "16" "633104" "633104" "subst" "0" "01804" "PIGQ_000015" "g.633104C>T" "" "" "" "PIGQ(NM_148920.4):c.1753C>T (p.(Gln585*))" "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 PIGQ ## Count = 19 "{{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}}" "0000065291" "00016156" "00" "690" "-2" "690" "-2" "c.690-2A>G" "r.spl?" "p.?" "2" "0000438201" "00016156" "77" "619" "0" "619" "0" "c.619C>T" "r.(?)" "p.(Arg207*)" "" "0000558687" "00016156" "50" "551" "0" "551" "0" "c.551del" "r.(?)" "p.(Gly184AlafsTer5)" "" "0000558688" "00016156" "10" "849" "0" "849" "0" "c.849G>T" "r.(?)" "p.(Leu283=)" "" "0000558689" "00016156" "50" "925" "0" "925" "0" "c.925C>G" "r.(?)" "p.(Leu309Val)" "" "0000558690" "00016156" "30" "1209" "0" "1209" "0" "c.1209C>T" "r.(?)" "p.(Tyr403=)" "" "0000558691" "00016156" "30" "1416" "7" "1416" "7" "c.1416+7T>C" "r.(=)" "p.(=)" "" "0000725889" "00016156" "30" "350" "0" "350" "0" "c.350C>T" "r.(?)" "p.(Ala117Val)" "" "0000725890" "00016156" "30" "429" "0" "429" "0" "c.429G>A" "r.(?)" "p.(Leu143=)" "" "0000763167" "00016156" "90" "619" "0" "619" "0" "c.619C>T" "r.(?)" "p.(Arg207*)" "" "0000795086" "00016156" "50" "157" "0" "157" "0" "c.157C>T" "r.(?)" "p.(Arg53Trp)" "" "0000807499" "00016156" "50" "1345" "0" "1345" "0" "c.1345G>A" "r.(?)" "p.(Gly449Arg)" "" "0000854577" "00016156" "30" "34" "0" "34" "0" "c.34G>A" "r.(?)" "p.(Val12Ile)" "" "0000914661" "00016156" "30" "1505" "0" "1505" "0" "c.1505G>A" "r.(?)" "p.(Arg502Gln)" "" "0000981983" "00016156" "50" "2097" "0" "2097" "0" "c.*351C>T" "r.(=)" "p.(=)" "" "0000981984" "00016156" "50" "2345" "0" "2345" "0" "c.*599A>G" "r.(=)" "p.(=)" "" "0001041236" "00016156" "50" "400" "0" "400" "0" "c.400C>T" "r.(?)" "p.(Arg134Cys)" "" "0001041237" "00016156" "70" "418" "0" "418" "0" "c.418C>T" "r.(?)" "p.(Gln140*)" "" "0001041238" "00016156" "50" "1815" "0" "1815" "0" "c.*69C>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000037982" "0000065291" "0000208367" "0000438201" "0000362793" "0000763167" "0000381596" "0000795086"