### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PIGH) # 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}}" "PIGH" "phosphatidylinositol glycan anchor biosynthesis, class H" "14" "q24.1" "unknown" "NG_050632.2" "UD_132463827798" "" "https://www.LOVD.nl/PIGH" "" "1" "8964" "5283" "600154" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-09-11 12:47:36" "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}}" "00016149" "PIGH" "phosphatidylinositol glycan anchor biosynthesis, class H" "001" "NM_004569.3" "" "NP_004560.1" "" "" "" "-97" "1341" "567" "68067017" "68056023" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33" "05365" "NEDHCAS" "neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures" "AR" "618879" "" "" "" "00006" "2017-12-29 14:39:52" "00006" "2024-07-24 10:12:34" "05421" "microcephaly" "microcephaly" "" "" "" "" "" "00006" "2018-04-15 11:41:15" "" "" "05830" "GPIBD17" "glycosylphosphatidylinositol biosynthesis defect, type 17 (GPIBD17)" "AR" "618010" "" "" "" "00006" "2020-09-11 12:47:02" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PIGH" "05830" ## 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}}" "00050297" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "uninherited diplotypes" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00154934" "" "" "" "1" "" "00081" "{PMID:Nguyen et al., 2018:29603516}" "Proband is the only child of a consanguineous couple of Indian origin (second cousins)." "M" "yes" "India" "" "0" "" "" "Indian" "1" "00163846" "" "" "" "2" "" "00081" "{PMID:Pagnamenta 2018:29573052}" "DECIPHER ID 265247" "M" "yes" "" "" "0" "" "" "Pakistani" "IV-1" "00163847" "" "" "00163846" "1" "" "00081" "{PMID:Pagnamenta 2018:29573052}" "" "F" "yes" "" "" "0" "" "" "Pakistani" "IV-2" "00309913" "" "" "" "1" "" "03219" "" "" "M" "yes" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00050297" "00198" "00154934" "00139" "00163846" "04270" "00163846" "05162" "00163846" "05421" "00163847" "04270" "00163847" "05162" "00163847" "05421" "00309913" "05365" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 04270, 05162, 05365, 05421, 05830 ## Count = 3 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000036909" "00198" "00050297" "00006" "Unknown" "" "severe undiagnosed developmental disorders" "" "" "" "" "" "" "" "" "" "" "" "0000155301" "00139" "00154934" "00081" "Familial, autosomal recessive" "" "Two episodes of febrile seizures at the age of 17 months, but these did not recur. Hypotonia, moderate global developmental delay and autism at 2.5 years old. High palate and slight hirsutism. Low ferritin, but normal total iron binding capacity. Normal serum ALP level. EEG and brain MRI were normal. He did not have abnormal digits or nails on the hands and feet.; moderate global developmental delay (HP:0011343)" "" "" "" "" "" "" "" "" "" "" "" "0000235902" "05365" "00309913" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "GPIBD17" "glycosylphosphatidylinositol biosynthesis defect" "" ## 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}}" "0000050242" "00050297" "1" "00006" "00006" "2015-09-27 13:26:52" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000155792" "00154934" "1" "00081" "00081" "2018-03-05 18:47:37" "" "" "SEQ-NG-I" "DNA" "" "" "0000164709" "00163846" "1" "00081" "00081" "2018-04-18 21:45:32" "" "" "SEQ-NG" "DNA" "" "WES" "0000164710" "00163847" "1" "00081" "00081" "2018-04-18 21:55:20" "" "" "SEQ-NG" "DNA" "" "WES" "0000311060" "00309913" "1" "03219" "03219" "2020-09-06 14:28:23" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000050242" "PLEKHH1" "0000155792" "PIGH" "0000311060" "PIGH" ## 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}}" "0000079194" "3" "90" "14" "68053899" "68053899" "subst" "0.00766081" "00006" "PIGH_000001" "g.68053899C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "association variant/phenotype uncertain" "Germline" "" "" "0" "" "" "g.67587182C>T" "" "pathogenic" "" "0000305895" "0" "10" "14" "68053899" "68053899" "subst" "0.00766081" "01943" "PIGH_000001" "g.68053899C>T" "" "" "" "PLEKHH1(NM_020715.2):c.4042C>T (p.R1348*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67587182C>T" "" "benign" "" "0000323736" "0" "50" "14" "68050491" "68050491" "subst" "0.00273114" "01804" "PLEKHH1_000001" "g.68050491C>T" "" "" "" "PLEKHH1(NM_020715.2):c.3460C>T (p.(Pro1154Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67583774C>T" "" "VUS" "" "0000356872" "3" "99" "14" "68060543" "68060543" "subst" "1.62451E-5" "00081" "PIGH_000002" "g.68060543A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.67593826A>G" "" "pathogenic" "" "0000368269" "3" "70" "14" "68066920" "68066920" "subst" "2.31573E-5" "00081" "PIGH_000003" "g.68066920T>A" "" "{PMID:Pagnamenta et al. 2018:29573052}" "" "" "" "Germline" "yes" "rs761543313" "0" "" "" "g.67600203T>A" "" "likely pathogenic" "" "0000368270" "3" "70" "14" "68066920" "68066920" "subst" "2.31573E-5" "00081" "PIGH_000003" "g.68066920T>A" "" "{PMID:Pagnamenta et al. 2018:29573052}" "" "" "" "Germline" "yes" "rs761543313" "0" "" "" "g.67600203T>A" "" "likely pathogenic" "" "0000686238" "3" "70" "14" "68056877" "68056877" "subst" "2.69389E-5" "03219" "PIGH_000005" "g.68056877G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000691694" "0" "50" "14" "68056880" "68056880" "subst" "0" "02325" "PIGH_000006" "g.68056880G>C" "" "" "" "PIGH(NM_004569.5):c.484C>G (p.P162A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980964" "0" "30" "14" "68060533" "68060533" "subst" "0.000865045" "01804" "PIGH_000007" "g.68060533G>A" "" "" "" "PIGH(NM_004569.5):c.317C>T (p.(Ser106Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980965" "0" "30" "14" "68060675" "68060675" "subst" "2.14561E-5" "01804" "PIGH_000008" "g.68060675G>A" "" "" "" "PIGH(NM_004569.5):c.181-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001107" "0" "30" "14" "68029097" "68029097" "subst" "4.06312E-6" "01804" "PIGH_000009" "g.68029097T>C" "" "" "" "PLEKHH1(NM_020715.2):c.749T>C (p.(Val250Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001108" "0" "50" "14" "68045308" "68045308" "subst" "0" "01804" "PIGH_000010" "g.68045308T>C" "" "" "" "PLEKHH1(NM_020715.2):c.2809T>C (p.(Trp937Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040046" "0" "30" "14" "68029286" "68029286" "subst" "0.000556447" "01804" "PIGH_000011" "g.68029286C>T" "" "" "" "PLEKHH1(NM_020715.3):c.938C>T (p.(Pro313Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040047" "0" "30" "14" "68045953" "68045953" "subst" "0.00331126" "01804" "PIGH_000012" "g.68045953C>T" "" "" "" "PLEKHH1(NM_020715.3):c.2952C>T (p.(Ser984=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040048" "0" "50" "14" "68046585" "68046585" "subst" "0" "01804" "PIGH_000013" "g.68046585A>G" "" "" "" "PLEKHH1(NM_020715.3):c.3175A>G (p.(Ser1059Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040049" "0" "50" "14" "68066981" "68066981" "subst" "0" "01804" "PIGH_000014" "g.68066981G>A" "" "" "" "PIGH(NM_004569.5):c.-61C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054861" "0" "50" "14" "68059396" "68059396" "subst" "8.14206E-6" "01804" "PIGH_000015" "g.68059396G>T" "" "" "" "PIGH(NM_004569.5):c.430C>A (p.(Pro144Thr))" "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 PIGH ## 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}}" "0000079194" "00016149" "00" "3465" "0" "3465" "0" "c.*2898G>A" "r.(=)" "p.(=)" "" "0000305895" "00016149" "10" "3465" "0" "3465" "0" "c.*2898G>A" "r.(=)" "p.(=)" "" "0000323736" "00016149" "50" "6873" "0" "6873" "0" "c.*6306G>A" "r.(=)" "p.(=)" "" "0000356872" "00016149" "00" "307" "0" "307" "0" "c.307T>C" "r.(?)" "p.(Ser103Pro)" "" "0000368269" "00016149" "70" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.(Met1?)" "" "0000368270" "00016149" "70" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.(Met1?)" "" "0000686238" "00016149" "70" "487" "0" "487" "0" "c.487C>T" "r.(?)" "p.(Arg163Trp)" "4" "0000691694" "00016149" "50" "484" "0" "484" "0" "c.484C>G" "r.(?)" "p.(Pro162Ala)" "" "0000980964" "00016149" "30" "317" "0" "317" "0" "c.317C>T" "r.(?)" "p.(Ser106Leu)" "" "0000980965" "00016149" "30" "181" "-6" "181" "-6" "c.181-6C>T" "r.(=)" "p.(=)" "" "0001001107" "00016149" "30" "28267" "0" "28267" "0" "c.*27700A>G" "r.(=)" "p.(=)" "" "0001001108" "00016149" "50" "12056" "0" "12056" "0" "c.*11489A>G" "r.(=)" "p.(=)" "" "0001040046" "00016149" "30" "28078" "0" "28078" "0" "c.*27511G>A" "r.(=)" "p.(=)" "" "0001040047" "00016149" "30" "11411" "0" "11411" "0" "c.*10844G>A" "r.(=)" "p.(=)" "" "0001040048" "00016149" "50" "10779" "0" "10779" "0" "c.*10212T>C" "r.(=)" "p.(=)" "" "0001040049" "00016149" "50" "-61" "0" "-61" "0" "c.-61C>T" "r.(?)" "p.(=)" "" "0001054861" "00016149" "50" "430" "0" "430" "0" "c.430C>A" "r.(?)" "p.(Pro144Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000050242" "0000079194" "0000155792" "0000356872" "0000164709" "0000368269" "0000164710" "0000368270" "0000311060" "0000686238"