### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PIGU) # 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}}" "PIGU" "phosphatidylinositol glycan anchor biosynthesis, class U" "20" "q11.22" "unknown" "NG_011497.1" "UD_132119119016" "" "https://www.LOVD.nl/PIGU" "" "1" "15791" "128869" "608528" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/PIGU_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-08-07 19:50:59" "00000" "2025-11-01 13:22:20" ## 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}}" "00016160" "PIGU" "phosphatidylinositol glycan anchor biosynthesis, class U" "001" "NM_080476.4" "" "NP_536724.1" "" "" "" "-200" "1632" "1308" "33265089" "33148346" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33" "06520" "NEDBSS" "Glycosylphosphatidylinositol biosynthesis defect 21" "AR" "618590" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PIGU" "05162" "PIGU" "06520" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00260800" "" "" "" "2" "" "00006" "{PMID:Knaus 2019:31353022}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives" "F;M" "" "Turkey" "" "0" "" "" "" "Fam1" "00260801" "" "" "" "2" "" "00006" "{PMID:Knaus 2019:31353022}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "" "Netherlands" "" "0" "" "" "" "Fam2" "00260802" "" "" "" "1" "" "00006" "{PMID:Knaus 2019:31353022}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "" "Norway" "" "0" "" "" "" "Fam3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00260800" "05162" "00260801" "05162" "00260802" "05162" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05162, 06520 ## 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}}" "0000199331" "05162" "00260800" "00006" "Familial, autosomal recessive" "" "see paper; …, severe intellectual disability, epilepsy, brain anomalies" "" "" "" "" "" "" "" "" "developmental delay" "0000199332" "05162" "00260801" "00006" "Familial, autosomal recessive" "" "see paper; …, severe intellectual disability, epilepsy, brain anomalies" "" "" "" "" "" "" "" "" "developmental delay" "0000199333" "05162" "00260802" "00006" "Familial, autosomal recessive" "" "see paper; …, severe intellectual disability, epilepsy, brain anomalies" "" "" "" "" "" "" "" "" "developmental delay" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000261904" "00260800" "1" "00006" "00006" "2019-08-07 20:03:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000261905" "00260801" "1" "00006" "00006" "2019-08-07 20:03:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000261906" "00260802" "1" "00006" "00006" "2019-08-07 20:03:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000261904" "PIGU" "0000261905" "PIGU" "0000261906" "PIGU" ## 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 = 10 "{{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}}" "0000592024" "3" "90" "20" "33233125" "33233125" "subst" "0" "00006" "PIGU_000003" "g.33233125A>T" "" "{PMID:Knaus 2019:31353022}" "" "" "" "Germline" "yes" "" "0" "" "" "g.34645321A>T" "" "pathogenic (recessive)" "" "0000592025" "3" "90" "20" "33162953" "33162953" "subst" "2.43665E-5" "00006" "PIGU_000002" "g.33162953G>T" "" "{PMID:Knaus 2019:31353022}" "" "" "" "Germline" "yes" "" "0" "" "" "g.34575149G>T" "" "pathogenic (recessive)" "" "0000592026" "3" "90" "20" "33162953" "33162953" "subst" "2.43665E-5" "00006" "PIGU_000002" "g.33162953G>T" "" "{PMID:Knaus 2019:31353022}" "" "" "" "Germline" "" "" "0" "" "" "g.34575149G>T" "" "pathogenic (recessive)" "" "0000681597" "0" "30" "20" "33225806" "33225807" "del" "0" "02330" "PIGU_000004" "g.33225806_33225807del" "" "" "" "PIGU(NM_080476.4):c.319-6_319-5delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692964" "0" "30" "20" "33225793" "33225793" "subst" "0" "02325" "PIGU_000005" "g.33225793G>C" "" "" "" "PIGU(NM_080476.5):c.319-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855803" "0" "90" "20" "33162953" "33162953" "subst" "2.43665E-5" "02327" "PIGU_000002" "g.33162953G>T" "" "" "" "PIGU(NM_080476.5):c.1149C>A (p.N383K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000983779" "0" "30" "20" "33222529" "33222529" "subst" "0.000142287" "01804" "PIGU_000006" "g.33222529A>G" "" "" "" "PIGU(NM_080476.5):c.429-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005346" "0" "70" "20" "33162953" "33162953" "subst" "2.43665E-5" "02325" "PIGU_000002" "g.33162953G>T" "" "" "" "PIGU(NM_080476.5):c.1149C>A (p.N383K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001056880" "0" "50" "20" "33148734" "33148734" "subst" "0.000114531" "01804" "MAP1LC3A_000002" "g.33148734T>C" "" "" "" "PIGU(NM_080476.5):c.1244A>G (p.(Tyr415Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056881" "0" "50" "20" "33264885" "33264885" "subst" "0" "01804" "PIGU_000007" "g.33264885G>A" "" "" "" "PIGU(NM_080476.5):c.5C>T (p.(Ala2Val))" "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 PIGU ## Count = 10 "{{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}}" "0000592024" "00016160" "90" "209" "0" "209" "0" "c.209T>A" "r.(?)" "p.(.Ile70Lys)" "" "0000592025" "00016160" "90" "1149" "0" "1149" "0" "c.1149C>A" "r.(?)" "p.(Asn383Lys)" "" "0000592026" "00016160" "90" "1149" "0" "1149" "0" "c.1149C>A" "r.(?)" "p.(Asn383Lys)" "" "0000681597" "00016160" "30" "319" "-6" "319" "-5" "c.319-6_319-5del" "r.spl?" "p.?" "" "0000692964" "00016160" "30" "319" "-4" "319" "-4" "c.319-4C>G" "r.spl?" "p.?" "" "0000855803" "00016160" "90" "1149" "0" "1149" "0" "c.1149C>A" "r.(?)" "p.(Asn383Lys)" "" "0000983779" "00016160" "30" "429" "-10" "429" "-10" "c.429-10T>C" "r.(=)" "p.(=)" "" "0001005346" "00016160" "70" "1149" "0" "1149" "0" "c.1149C>A" "r.(?)" "p.(Asn383Lys)" "" "0001056880" "00016160" "50" "1244" "0" "1244" "0" "c.1244A>G" "r.(?)" "p.(Tyr415Cys)" "" "0001056881" "00016160" "50" "5" "0" "5" "0" "c.5C>T" "r.(?)" "p.(Ala2Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000261904" "0000592024" "0000261905" "0000592025" "0000261906" "0000592026"