### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PIGA) # 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}}" "PIGA" "phosphatidylinositol glycan anchor biosynthesis, class A" "X" "p22.1" "unknown" "LRG_160" "UD_132118268702" "" "" "" "1" "8957" "5277" "311770" "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" "http://databases.lovd.nl/shared/refseq/PIGA_codingDNA.html" "1" "" "" "0" "" "0" "00000" "2009-03-06 00:00:00" "00081" "2018-12-31 00:36:40" "00006" "2025-11-13 13:04:16" ## 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}}" "00000600" "PIGA" "transcript variant 1" "004" "NM_002641.3" "" "NP_002632.1" "" "" "" "-116" "3510" "1455" "15337573" "15353676" "00000" "2012-09-13 12:37:42" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 14 "{{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" "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" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00718" "MGORS3" "Meier-Gorlin syndrome, type 3 (MGORS-3)" "AR" "613803" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00841" "EIEE" "encephalopathy, epileptic, early infantile (EIEE)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-02-20 16:58:56" "01055" "SGBS2" "Simpson-Golabi-Behmel syndrome, type 2 (SGBS-2)" "XLR" "300209" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01061" "PNH1" "hemoglobinuria, nocturnal, paroxysmal, somatic, type 1 (PNH-1)" "" "300818" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01062" "MCAHS2;GPIBD4" "multiple congenital anomalies, hypotonia, seizures syndrome, type 2 (MCAHS-2, glycosylphosphatidylinositol deficiency, type 4 (GPIBD-4))" "XLR" "300868" "" "X-linked recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03912" "EEOC" "encephalopathy, epileptic, childhood-onset (EEOC)" "AD" "615369" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-06-06 18:22:59" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05170" "IE" "encephalopathy, infantile (IE)" "" "" "" "" "" "00006" "2016-05-26 16:15:47" "" "" "05262" "SGBS" "Simpson-Golabi-Behmel syndrome (SGBS)" "" "" "" "" "" "00006" "2017-04-21 21:59:47" "00006" "2021-12-10 21:51:32" "07067" "NEDEPH" "neurodevelopmental disorder with epilepsy and hemochromatosis" "" "301072" "" "" "" "00006" "2024-02-02 17:32:25" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "PIGA" "00139" "PIGA" "01061" "PIGA" "01062" "PIGA" "07067" ## Individuals ## Do not remove or alter this header ## ## Count = 42 "{{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" "" "" "" "" "00028953" "" "" "" "1" "" "00081" "{PMID:Nafa et al 1998 : 9787183}" "Patient with paroxysmal nocturnal hemoglobinuria (OMIM: 300818).Three somatic mutations were found in this patient before bone marrow transplantation, and one novel somatic mutation was found after treatment." "M" "" "" "" "0" "" "" "" "" "00028955" "" "" "" "1" "" "00081" "{PMID:Johnston et al 2012:22305531}" "Four generation family with two female carriers and three affected males with multiple congenital anomalies-hypotonia-seizures syndrome-2." "" "" "" "" "0" "" "" "" "" "00028956" "" "" "" "1" "" "00081" "{PMID:Kato et al 2014: 24706016}" "6-old-year patient." "M" "" "Japan" "" "0" "" "" "" "" "00028957" "" "" "" "1" "" "00081" "{PMID:Claes et al 1997:9307258}, {PMID:Belet et al 2014: 24357517}" "Four-generation family with three female carriers and five affected males with multiple congenital anomalies-hypotonia-seizures syndrome 2." "" "" "Belgium" "" "0" "" "" "" "" "00028960" "" "" "" "1" "" "00081" "{PMID:Kato et al 2014:24706016}" "Two brothers with early infantile epileptic encephalopathy." "M" "" "Japan" "" "0" "" "" "" "" "00028961" "" "" "" "1" "" "00081" "{PMID:Kato et al 2014:24706016}" "Boy with MCAHS2." "M" "" "Japan" "" "0" "" "" "" "" "00028962" "" "" "" "1" "" "00081" "{PMID:Kato et al 2014:24706016}" "15-month-old boy with MCAHS2" "M" "" "Japan" "" "0" "" "" "" "" "00028963" "" "" "" "1" "" "00081" "{PMID:Swoboda et al 2014:24259288 }" "Four generation family with three affected males and three female carriers." "M" "" "" "" "0" "" "" "" "" "00028964" "" "" "" "1" "" "00081" "{PMID:van der Crabben et al 2014: 24259184}" "Three generation family with one male affected and two female carriers." "M" "" "" "" "0" "" "" "white" "" "00102077" "" "" "" "1" "" "01864" "" "" "M" "no" "China" ">06y" "" "" "" "" "P7" "00154968" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00154979" "" "" "" "1" "" "00081" "{PMID:Kim 2016:26923721}" "" "M" "no" "" "" "0" "" "" "" "" "00155005" "" "" "" "1" "" "00081" "{PMID:Tarailo-Graovac 2015:25885527}" "" "M" "no" "" "" "0" "" "" "Chinese" "" "00155009" "" "" "" "2" "" "00081" "{PMID:Joshi 2016:27126216}" "" "M" "no" "" "" "0" "" "" "" "IIHG-112-1" "00155010" "" "" "00155009" "1" "" "00081" "{PMID:Joshi 2016:27126216}" "" "M" "no" "" "" "0" "" "" "" "IIHG-112-5" "00172471" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172472" "" "" "" "1" "" "01173" "{PMID:Claes 1997:9307258}" "" "M" "no" "Belgium" "" "0" "" "" "white" "09307258-Pat" "00207383" "" "" "" "1" "" "00081" "{PMID:Yang et al., 2018:29974678}" "WES performed on two trios (the proband\'s family and his affected maternal cousin\'s family) from a nonconsanguineous\r\nChinese family pedigree with hypotonia‐encephalopathy‐seizures disease history and putative X‐linked recessive inheritance. IV:4 is the second son of healthy parent." "M" "no" "China" "00y02m" "0" "" "" "Chinese" "IV:4" "00207384" "" "" "" "1" "" "00081" "{PMID:Yang et al., 2018:29974678}" "Maternal cousin of individual IV:4 from the same paper." "M" "no" "China" "" "0" "" "" "Chinese" "IV:2" "00207385" "" "" "" "1" "" "00081" "{PMID:Yang et al., 2018:29974678}" "Uncle of individual IV:2 (brother of IV:2\'s mother)." "M" "no" "China" "01y" "0" "" "" "Chinese" "III:5" "00207498" "" "" "" "1" "" "00081" "{PMID:Lin et al., 2018:29656098}" "First family with PIGA-associated epileptic encephalopathy in Taiwan. Proband is third child of a pair of nonconsanguineous healthy parents." "M" "no" "Taiwan" ">00y03m" "0" "" "Anti-epileptic drugs, levodopa" "Taiwanese" "ZY07" "00207501" "" "" "" "1" "" "00081" "{PMID:Xie et al., 2018:29502866}" "Monozygotic twins" "M" "no" "China" ">00y14m" "0" "" "Antiepileptic medications, ketogenic diet therapy" "Chinese" "Elder twin" "00207513" "" "" "" "1" "" "00081" "{PMID:Xie et al., 2018:29502866}" "Monozygotic twins" "M" "no" "China" ">00y14m" "0" "" "Antiepileptic medications, ketogenic diet therapy" "Chinese" "YoungerTwin" "00207516" "" "" "" "1" "" "00081" "{PMID:Low et al., 2018:29414593}" "17 year old man (only child) with infantile epilepsy and developmental delay who has a maternally inherited missense mutation in PIGA" "M" "no" "" ">17y" "0" "" "Anti-epileptic drugs, ketogenic diet, vagal nerve stimulator (VNS)" "" "Decipher ID 271747" "00207517" "" "" "" "1" "" "00081" "{PMID:Trump et al., 2016:26993267}" "Mutation found in a gene panel" "M" "" "" "" "0" "" "" "" "Patient_32" "00207518" "" "" "" "1" "" "00081" "{PMID:Fauth et al., 2016:26545172}" "" "M" "no" "Bosnia and Herzegovina;Switzerland" "00y00m15d" "0" "" "Anti-epileptic medications" "European" "P1" "00207519" "" "" "" "1" "" "00081" "{PMID:Fauth et al., 2016:26545172}" "" "M" "no" "Austria;Dominican Republic" "00y03m" "0" "" "" "" "P2" "00207520" "" "" "" "1" "" "00081" "{PMID:Fauth et al., 2016:26545172}" "older brother of patient 2. Stillborn at 32+2w." "M" "no" "Austria;Dominican Republic" "" "0" "" "" "" "P3" "00207522" "" "" "" "1" "" "00081" "{PMID:Lionel et al., 2018:28771251}" "Variant found in a patient with a clinical phenotype suggestive of an underlying genetic disorder using WGS" "M" "?" "Canada" "" "0" "" "" "" "28771251-Pat27" "00294971" "" "" "" "66" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305273" "" "" "" "44" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00314858" "" "" "" "1" "" "00006" "{PMID:Zhu 2015:25590979}" "" "M" "" "Israel" "" "0" "" "" "" "Trio1" "00325398" "" "" "" "1" "" "00006" "{PMID:Hong 2020:33333793}" "" "M" "" "Taiwan" "" "0" "" "" "" "Pat11" "00427809" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29314583}" "" "M" "" "China" "" "0" "" "" "" "Pat193" "00447936" "" "" "" "1" "" "00006" "{PMID:Ostrander 2018:30109124}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "Pat4" "00448417" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "288290" "00448512" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "286520" "00464295" "" "" "" "1" "" "04409" "" "" "F" "no" "China" "" "" "" "" "Chinese" "R087" "00467290" "" "" "" "1" "" "00006" "{PMID:Soden 2014:25473036}" "family, 1 affected" "" "" "United States" "" "0" "" "" "" "CMH301" "00469206" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 42 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00028953" "01061" "00028955" "01062" "00028956" "01062" "00028957" "01062" "00028960" "01062" "00028961" "01062" "00028962" "01062" "00028963" "01062" "00028964" "01062" "00102077" "00139" "00154968" "00198" "00154979" "03912" "00155005" "00718" "00155009" "03912" "00155010" "03912" "00172471" "00187" "00172472" "01062" "00207383" "01062" "00207384" "01062" "00207385" "01062" "00207498" "05170" "00207501" "03912" "00207513" "03912" "00207516" "00841" "00207517" "00841" "00207518" "05262" "00207519" "01055" "00207520" "01055" "00207522" "01062" "00294971" "00198" "00305273" "00198" "00314858" "00198" "00325398" "00198" "00427809" "04270" "00447936" "00841" "00448417" "01062" "00448512" "07067" "00464295" "00139" "00467290" "00198" "00469206" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 00198, 00718, 00841, 01055, 01061, 01062, 01157, 03912, 04270, 05170, 05262, 07067 ## Count = 35 "{{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/Tumor/MSI}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000024982" "01062" "00028955" "00081" "Familial, autosomal recessive" "" "Three males with an X-linked lethal disorder involving cleft palate, neonatal seizures, contractures, central nervous system (CNS) structural malformations, and other anomalies." "" "" "" "" "" "" "" "" "" "" "" "" "" "0000024983" "01062" "00028956" "00081" "Unknown" "06y" "The boy presented early infantile epileptic encephalopathy. He also had severe disability, myoclonus, and quadriplegia." "" "" "" "" "" "" "" "" "" "" "" "" "" "0000024985" "01062" "00028957" "00081" "Familial, X-linked recessive" "" "The patients had profound retardation, axial hypotonia, epileptic seizures, and hypsarrhythmia. None of them suffered from any signs of PNH. The hypomorph protein, in this patients, prevents the lethality but not the MCAHS-2 like phenotype." "" "" "" "" "" "" "" "" "" "" "" "" "" "0000024986" "01062" "00028960" "00081" "Familial" "" "Siblings showing early myoclonic encephalopathy," "" "" "" "" "" "" "" "" "" "" "" "" "" "0000024987" "01062" "00028961" "00081" "Unknown" "" "Patient with early infantile epileptic encephalopathy." "" "" "" "" "" "" "" "" "" "" "" "" "" "0000024988" "01062" "00028962" "00081" "Unknown" "" "Patient with early infantile epileptic encephalopathy." "" "" "" "" "" "" "" "" "" "" "" "" "" "0000024989" "01062" "00028963" "00081" "Familial, X-linked recessive" "" "The affected males presented neurological involvement characterized by an infantile-onset epilepsy and encephalopathy, and cutaneous abnormalities and evidence of systemic iron overload." "" "" "" "" "" "" "" "" "" "" "" "" "" "0000024990" "01062" "00028964" "00081" "Familial, X-linked recessive" "" "He had febrile seizures at 8.5 months. He had development delay. Clinical examination showed a high anterior hairline, mildly upslanted palpebral fissures, a thin vermillion, a long philtrum, alveolar ridge overgrowth, absence of teeth and deepened plantar creases. He presented several types of seizures. Atrial septal defect type 2 was seen. Elevated alkaline phosphatase level was noted." "" "" "" "" "" "" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "" "" "" "0000080263" "00139" "00102077" "01864" "Isolated (sporadic)" "" "HP:0001250; intellectual disability (HP:0001249)" "" "" "" "" "" "" "yes" "" "" "" "" "" "" "0000127700" "00198" "00154968" "01807" "Unknown" "" "HP:0001249 (Intellectual disability)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000137335" "00187" "00172471" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137336" "00198" "00172472" "01173" "Familial, X-linked recessive" "" "profound mental retardation, infantile spasm, profound retardation, axial hypotonia, epileptic seizures, hypsarrhythmia" "5m" "" "" "" "" "" "" "" "" "" "MCAHS-2" "MCAHS2 [MIM 300868]" "" "0000155154" "01062" "00207383" "00081" "Familial, X-linked" "00y00m29d" "Psychomotor DD, hypotonia, encepalopathy features (including loss of facial expression and eye pursuit), brain abnormalities (including high symmetry flake signal in bilateral pontine tegmental area and testibrachium), no epilepsy, minor dysmorphism (concave nasal bridge, low-set ears)" "<00y00m29d" "" "" "" "" "" "" "" "" "" "" "" "" "0000155155" "01062" "00207384" "00081" "Familial, X-linked" "00y10m" "Hypotonia after birth, repeated seizures (epilepsy), ID." "<00y10m" "" "" "" "" "" "" "" "" "" "" "" "" "0000155156" "01062" "00207385" "00081" "Familial, X-linked" "<01y" "Hypotonia, epilepsy, ID" "?" "" "" "" "" "" "" "" "" "" "" "" "" "0000155276" "05170" "00207498" "00081" "Familial, X-linked" "" "Systemic cyanosis and muscular hypotonia. Facial dysmorphism (depressed nasal bridge, large mouth, high-arched palate, micrognathia). Severe global DD, axial hypotonia and dyskinasia. Epileptic spasms and erratic myoclonic seizures. Progressive brain atrophy, delayed myelination, thin corpus callosum. Bilateral hydronephrosis. Elevated ALP level (405 IU/L)" "" "" "00y03m" "" "" "" "" "" "" "" "" "" "" "0000155278" "03912" "00207501" "00081" "Familial, X-linked" "" "Paroxymal opisthotonus, DD, early-onset intractable epilepsy, generalized tonic-clonic seizures, Status epilepticus, myoclonic seizures, delayed psychomotor development, hypotonia, opisthotonus, and dysmorphism. Refractory partial and secondary generalized tonic-clonic or myoclonic seizures since age of 6 m. Mild dysmorphism (wide-set eyes, depressed nasal bridge, short anteverted nose.) Normal ALP level. Normal brain MRI. No microcephaly, bone deformity or joint contracture." "00y10m" "" "" "" "" "" "" "" "" "" "Early onset epileptic encephalopathies (EOEE)" "" "" "0000155291" "03912" "00207513" "00081" "Familial, X-linked" "" "Paroxymal opisthotonus, DD, early-onset intractable epilepsy, generalized tonic-clonic seizures, delayed psychomotor development, hypotonia, opisthotonus, and dysmorphism. Refractory partial and secondary generalized tonic-clonic or myoclonic seizures since age of 6 months. Normal ALP levels. Mild dysmorphism with wide-set eyes, depressed nasal bridge, and short anteverted nose. No status epilepticus, myoclonic seizures. No microcephaly, bone deformity or joint contracture." "" "" "" "" "" "" "" "" "" "" "EOEE" "" "" "0000155293" "00841" "00207516" "00081" "Familial, X-linked" "" "Epilepsy, focal seizures with hypertonicity which evolved during childhood to include atypical absence seizures, tonic seizures and atonic (drop) attacks. Choreoathetoid movements. Blepharitis. Vision and hearing are normal but speech is absent. Global DD. No congenital malformations such as cleft palate or congenital heart disease." "00y04m" "" "" "" "" "" "" "" "" "" "" "" "" "0000155294" "00841" "00207517" "00081" "Familial, X-linked" "" "Seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155295" "00841" "00207518" "00081" "Familial, X-linked" "" "High anterior hairline, upslanted palpebral fissures, a depressed nasal bridge, short nose with anteverted nares, malar flattening, a long philtrum, a thin vermilion of the lips, down‐turned corners of the mouth, micrognathia, a cleft soft palate, large and uplifted earlobes, an overfolded helix of the left ear, and a short neck. Widely spaced nipples. Severe muscular hypotonia and multiple contractures involving the elbows, wrists, fingers, hips and knees, short limbs, and rocker‐bottom feet. Small cerebellum, white‐matter immaturity, prominent sulci, and small optic nerves. Tonic seizures with ocular deviation. Hepatosplenomegaly and developed sepsis from necrotizing enterocolitis. Echochardiography showed a persistent foramen ovale and mild pulmonary hypertension. ALP level not recorded." "" "" "" "" "" "" "" "" "" "" "EIEE" "" "" "0000155296" "01055" "00207519" "00081" "Familial, X-linked" "" "Severe muscular hypotonia, contractures of the knees, elbows, and fingers, and lack of spontaneous movements. Dysmorphic with a high anterior hairline, bitemporal narrowing, a prominent metopic ridge with a midline naevus simplex, widely spaced eyes, a depressed nasal bridge, a short nose with anteverted nares, a prominent, fleshy philtrum, a wide mouth with thick vermilion of the lips, gingival overgrowth, a narrow V‐shaped palate without clefting, micrognathia with a vertical median chin crease, overfolded ear helices, a short webbed neck, widely spaced nipples, short distal phalanges of hands and feet with small nails, and a single transverse palmar crease of the right hand. Bilateral inguinal hernias, a small penis, and an atrial septal defect, type II with a left‐right shunt. Elevated ALP level." "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155297" "01055" "00207520" "00081" "Familial, X-linked" "" "Coarse facial features and contractures of the fingers. Autopsy showed cystic dilation of the intrahepatic ducts, a large cystic structure in the hilar region of the liver, and mild hydronephrosis. There were no obvious brain malformations. ALP level not applicable." "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155298" "01062" "00207522" "00081" "Familial, X-linked" "" "Global developmental delay; seizures; central hypotonia; brain atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000238616" "00198" "00314858" "00006" "Isolated (sporadic)" "9y" "Profound intellectual disability, Angelman features, early epileptic encephalopathy." "21d" "" "" "" "" "" "" "" "" "" "" "" "" "0000243885" "00198" "00325398" "00006" "Unknown" "" "3d-onset seizures; apnea, cyanosis, absence seizures, atonic seizures, spasms; severe global developmental delay" "" "" "15d" "" "" "" "" "" "" "" "" "developmental epileptic encephalopathy" "" "0000318783" "04270" "00427809" "00006" "Isolated (sporadic)" "2y" "intellectual disability; febrile seizures, complex partial seizure, frequency 1-2/wk; EEG focal spike wave; MRI brain normal; resistant to antiepileptic drugs" "6m" "" "" "" "" "" "" "" "" "" "" "unclassified epileptic encephalopathy" "" "0000337129" "00841" "00447936" "00006" "Isolated (sporadic)" "" "see paper; ..., hypotonia, global developmental delay, cerebral palsy, dysphagia; seizure types generalized tonic; EEG Slow background, multifocal and generalized spike wave discharges; MRI brain delayed myelination" "<1m" "" "" "" "" "" "" "" "" "" "NEDEPH" "early infantile epileptic encephalopathy" "" "0000337605" "01062" "00448417" "01164" "Familial, autosomal recessive" "01y" "Generalized myoclonic-atonic seizure, EEG abnormality" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337689" "07067" "00448512" "01164" "Isolated (sporadic)" "01y" "Delayed gross motor development, Neurodevelopmental delay, Abnormal visual fixation, Focal-onset seizure, Febrile status epilepticus, Esodeviation, Large for gestational age, EEG abnormality, Hypomethioninemia" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000350371" "00139" "00464295" "04409" "Familial, X-linked recessive" "00y11m" "Hypotonia, severe pneumonia, epilepsy." "" "" "" "" "luoxiaomei" "" "" "" "" "" "" "mental retardation" "" "0000352497" "00198" "00467290" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "MCAHSS" "" "0000354359" "00198" "00469206" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" ## Screenings ## Do not remove or alter this header ## ## Count = 42 "{{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" "" "" "0000028987" "00028953" "1" "00081" "00081" "2015-01-06 17:01:26" "" "" "SSCA" "DNA" "" "" "0000028989" "00028955" "1" "00081" "00081" "2015-01-06 20:17:12" "" "" "SEQ-NG" "DNA" "" "" "0000028990" "00028956" "1" "00081" "00081" "2015-01-06 20:40:30" "" "" "SEQ-NG" "DNA" "" "" "0000028991" "00028957" "1" "00081" "00081" "2015-01-06 20:57:22" "" "" "SEQ-NG" "DNA" "" "" "0000028994" "00028960" "1" "00081" "00081" "2015-01-06 21:44:47" "" "" "SEQ-NG" "DNA" "" "" "0000028995" "00028961" "1" "00081" "00081" "2015-01-06 22:03:53" "" "" "SEQ-NG" "DNA" "" "" "0000028996" "00028962" "1" "00081" "00081" "2015-01-06 22:15:11" "" "" "SEQ-NG" "DNA" "" "" "0000028997" "00028963" "1" "00081" "00081" "2015-01-06 22:43:12" "" "" "SEQ-NG" "DNA" "" "" "0000028998" "00028964" "1" "00081" "00081" "2015-01-06 23:08:00" "" "" "SEQ-NG" "DNA" "" "" "0000102526" "00102077" "1" "01864" "01864" "2017-03-30 08:00:23" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000155831" "00154968" "0" "01807" "01807" "2018-03-07 04:18:36" "" "" "SEQ" "DNA" "" "" "0000155842" "00154979" "1" "00081" "00081" "2018-03-07 20:39:17" "" "" "SEQ-NG" "DNA" "" "WES" "0000155868" "00155005" "1" "00081" "00081" "2018-03-08 17:43:06" "" "" "SEQ-NG" "DNA" "peripheral blood" "WES" "0000155872" "00155009" "1" "00081" "00081" "2018-03-08 23:26:48" "" "" "SEQ-NG" "DNA" "" "WES" "0000155873" "00155010" "1" "00081" "00081" "2018-03-08 23:34:11" "" "" "SEQ" "DNA" "" "" "0000173354" "00172471" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000173355" "00172472" "1" "01173" "01173" "2013-11-05 15:45:32" "00006" "2013-11-21 09:46:11" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000208420" "00207383" "1" "00081" "00081" "2018-11-20 17:51:56" "" "" "SEQ-NG" "DNA" "Peripheral blood" "" "0000208421" "00207384" "1" "00081" "00081" "2018-11-20 18:55:53" "" "" "SEQ-NG" "DNA" "Peripheral blood" "" "0000208422" "00207385" "1" "00081" "00081" "2018-11-20 19:07:40" "" "" "SEQ;SEQ-NG" "DNA" "Peripheral blood" "WES" "0000208535" "00207498" "1" "00081" "00081" "2018-11-23 16:48:48" "" "" "SEQ;SEQ-NG-I" "DNA" "Peripheral blood" "WES" "0000208537" "00207501" "1" "00081" "00081" "2018-11-23 16:54:35" "" "" "SEQ;SEQ-NG" "DNA" "Peripheral blood" "WES" "0000208550" "00207513" "1" "00081" "00081" "2018-11-23 17:42:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000208552" "00207516" "1" "00081" "00081" "2018-11-23 17:47:27" "" "" "SEQ-NG" "DNA" "" "Trio-based exam sequencing" "0000208553" "00207517" "1" "00081" "00081" "2018-11-23 17:52:57" "" "" "SEQ-NG-I" "DNA" "" "Targeted sequencing on an Illumina MiSeq platform and targeted, exon-level microarray copy number analysis." "0000208554" "00207518" "1" "00081" "00081" "2018-11-23 17:57:45" "" "" "SEQ;SEQ-NG" "DNA" "Peripheral blood" "WES" "0000208557" "00207519" "1" "00081" "00081" "2018-11-23 18:03:17" "" "" "SEQ;SEQ-NG" "DNA" "Peripheral blood" "" "0000208558" "00207520" "1" "00081" "00081" "2018-11-23 18:06:56" "" "" "SEQ;SEQ-NG" "DNA" "paraffin‐embedded liver tissue" "WES" "0000208559" "00207522" "1" "00081" "00081" "2018-11-23 18:14:40" "" "" "SEQ-NG-I" "DNA" "" "WGS Illumina" "0000296139" "00294971" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306402" "00305273" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000316032" "00314858" "1" "00006" "00006" "2020-10-20 15:09:17" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000326609" "00325398" "1" "00006" "00006" "2021-01-02 12:18:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429132" "00427809" "1" "00006" "00006" "2022-12-13 13:20:24" "" "" "SEQ;SEQ-NG" "DNA" "" "target gene panel" "0000449507" "00447936" "1" "00006" "00006" "2024-02-02 18:50:24" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000449993" "00448417" "1" "01164" "01164" "2024-03-08 12:23:46" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000450092" "00448512" "1" "01164" "01164" "2024-03-18 16:38:58" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000465939" "00464295" "1" "04409" "04409" "2025-03-03 02:27:22" "" "" "SEQ-NG-RNA" "RNA" "whole blood" "" "0000468953" "00467290" "1" "00006" "00006" "2025-10-10 16:20:58" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000470874" "00469206" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 28 "{{screeningid}}" "{{geneid}}" "0000028987" "PIGA" "0000028989" "PIGA" "0000028990" "PIGA" "0000028991" "PIGA" "0000028994" "PIGA" "0000028995" "PIGA" "0000028996" "PIGA" "0000028997" "PIGA" "0000028998" "PIGA" "0000102526" "PIGA" "0000173354" "PIGA" "0000208420" "PIGA" "0000208421" "PIGA" "0000208422" "PIGA" "0000208535" "PIGA" "0000208537" "PIGA" "0000208550" "PIGA" "0000208552" "PIGA" "0000208553" "PIGA" "0000208554" "PIGA" "0000208557" "PIGA" "0000208558" "PIGA" "0000208559" "PIGA" "0000316032" "PIGA" "0000326609" "PIGA" "0000449993" "PIGA" "0000450092" "PIGA" "0000465939" "PIGA" ## 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 = 116 "{{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}}" "0000001801" "20" "50" "X" "15337857" "15337857" "dup" "0" "00037" "PIGA_000004" "g.15337857dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.15319735dup" "" "VUS" "" "0000001802" "20" "50" "X" "15343402" "15343403" "dup" "0" "00037" "PIGA_000012" "g.15343402_15343403dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.15325280_15325281dup" "" "VUS" "" "0000002800" "20" "50" "X" "15337857" "15337857" "dup" "0" "00037" "PIGA_000018" "g.15337857dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.15319735dup" "" "VUS" "" "0000002801" "20" "50" "X" "15343402" "15343403" "dup" "0" "00037" "PIGA_000017" "g.15343402_15343403dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.15325280_15325281dup" "" "VUS" "" "0000006366" "20" "50" "X" "15337614" "15337614" "subst" "0" "00037" "PIGA_000003" "g.15337614T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.15319492T>C" "" "VUS" "" "0000006367" "20" "50" "X" "15337882" "15337882" "subst" "0" "00037" "PIGA_000006" "g.15337882A>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.15319760A>T" "" "VUS" "" "0000006368" "20" "50" "X" "15338002" "15338002" "subst" "0" "00037" "PIGA_000009" "g.15338002A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.15319880A>G" "" "VUS" "" "0000006369" "20" "50" "X" "15353483" "15353483" "subst" "0" "00037" "PIGA_000015" "g.15353483G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.15335361G>C" "" "VUS" "" "0000008429" "20" "50" "X" "15337614" "15337614" "subst" "0" "00037" "PIGA_000003" "g.15337614T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.15319492T>C" "" "VUS" "" "0000008430" "20" "50" "X" "15337857" "15337857" "dup" "0" "00037" "PIGA_000004" "g.15337857dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.15319735dup" "" "VUS" "" "0000008431" "20" "50" "X" "15337882" "15337882" "subst" "0" "00037" "PIGA_000006" "g.15337882A>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.15319760A>T" "" "VUS" "" "0000008432" "20" "50" "X" "15338002" "15338002" "subst" "0" "00037" "PIGA_000009" "g.15338002A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.15319880A>G" "" "VUS" "" "0000008433" "20" "50" "X" "15343402" "15343403" "dup" "0" "00037" "PIGA_000012" "g.15343402_15343403dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.15325280_15325281dup" "" "VUS" "" "0000010805" "20" "50" "X" "15337857" "15337857" "dup" "0" "00037" "PIGA_000018" "g.15337857dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.15319735dup" "" "VUS" "" "0000010806" "20" "50" "X" "15343402" "15343403" "dup" "0" "00037" "PIGA_000017" "g.15343402_15343403dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.15325280_15325281dup" "" "VUS" "" "0000014325" "20" "50" "X" "15349170" "15349170" "subst" "0" "00037" "PIGA_000014" "g.15349170G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.15331048G>T" "" "VUS" "" "0000014326" "20" "50" "X" "15353483" "15353483" "subst" "0" "00037" "PIGA_000015" "g.15353483G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.15335361G>C" "" "VUS" "" "0000052299" "0" "90" "X" "15339728" "15339729" "ins" "0" "00081" "PIGA_000028" "g.15339728_15339729insTT" "" "{PMID:Nafa et al 1998 : 9787183}" "" "" "This insertion was found with a duplication of the preceding 32 nucleotides. This insertion causes a frameshift and a stop codon at 452 postion. 90% of his PMN were deficient in CD59, CD24, and CD16." "Somatic" "yes" "" "0" "" "" "g.15321606_15321607insTT" "" "pathogenic" "" "0000052300" "0" "90" "X" "15339728" "15339759" "dup" "0" "00081" "PIGA_000029" "g.15339728_15339759dup" "" "{PMID:Nafa et al. 1998:9787183}" "" "" "This variant was found with a 2bp insertion at 1355 position. This caused a frameshift and a stop codon at codon 452. 90% of PMN were deficient in CD59, CD24, and CD16." "Somatic" "yes" "" "0" "" "" "g.15321606_15321637dup" "" "pathogenic" "" "0000052301" "0" "90" "X" "15349842" "15349842" "subst" "0" "00081" "PIGA_000030" "g.15349842T>C" "" "{PMID:Nafa et al 1998:9787183}" "" "" "Mutation found in 13 over 36 clones. This mutation was present in the patient\'s bone marrow before the treatment." "Somatic" "yes" "" "0" "" "" "g.15331720T>C" "" "pathogenic" "" "0000052302" "0" "90" "X" "15349802" "15349802" "subst" "0" "00081" "PIGA_000031" "g.15349802G>A" "" "{PMID:Nafa et al. 1998 :9787183}" "" "" "Mutation found in 5 over 36 clones. The clones carrying this mutation also carried the Thr71Ala mutation. Those mutations were found in the patient\'s BM before the treatment." "Somatic" "yes" "" "0" "" "" "g.15331680G>A" "" "pathogenic" "" "0000052303" "0" "90" "X" "15350037" "15350037" "subst" "0" "00081" "PIGA_000032" "g.15350037C>A" "" "{PMID:Nafa et al. 1998 :9787183}" "" "" "Variant found in 14% of clones. This mutation was found in patient\'s bone marrow before the treatment." "Somatic" "yes" "" "0" "" "" "g.15331915C>A" "" "pathogenic" "" "0000052305" "21" "90" "X" "15339849" "15339849" "subst" "0" "00081" "PIGA_000033" "g.15339849G>A" "" "{PMID:Johnston et al 2012: 22305531}" "" "" "Mutation segregated with affected males and carriers. Absent in 409 controls. Transfection of p.Arg412(∗) PIGA construct into PIGA-null cells showed partial restoration of GPI-anchored proteins, which suggest partial activity." "Germline" "yes" "rs387906726" "0" "" "" "g.15321727G>A" "" "pathogenic" "" "0000052306" "0" "90" "X" "15339849" "15339849" "subst" "0" "00081" "PIGA_000033" "g.15339849G>A" "" "{PMID:Kato et al 2014:24706016}" "" "" "Expression of GPI-anchored proteins in PIGA-deficient JY5 cells was only partially restored after transfection." "Unknown" "yes" "rs387906726" "0" "" "" "g.15321727G>A" "" "pathogenic" "" "0000052307" "21" "90" "X" "15349979" "15349979" "dup" "0" "00081" "PIGA_000002" "g.15349979dup" "" "{PMID:Belet et al 2014: 24357517}" "" "" "This mutation was not found in the 1000 Genomes Project, dbSNP, or Exome Variant Server database. The patients had reduced CD59 surface expression.This early frameshift mutation in PIGA produces a truncated hypomorph. Complementation assays confirmed that this shorter PIGA cDNA was able to partially rescue the surface expression of CD59 in a PIGA-null cell line." "Germline" "yes" "rs587777397" "0" "" "" "g.15331857dup" "" "pathogenic" "" "0000052311" "0" "90" "X" "15349823" "15349823" "subst" "0" "00081" "PIGA_000035" "g.15349823C>A" "" "{PMID:Kato et al 2014:24706016}" "" "" "Variant in a highly conserved residue. It was absent in in the Exome Variant Server database or in 573 exome controls. In vitro studies showed that the mutant protein could partially restore GPI-anchored protein expression in PIGA-null cells." "Germline" "yes" "rs587777398" "0" "" "" "g.15331701C>A" "" "pathogenic" "" "0000052312" "0" "90" "X" "15349437" "15349437" "subst" "0" "00081" "PIGA_000036" "g.15349437T>A" "" "{PMID:Kato et al 2014:24706016}" "" "" "Variant in a highly conserved residue. It was absent in the Exome Variant Server database or in 573 exome controls. In vitro studies showed that mutant protein partially restored GPI-anchored proteins expression in PIGA-null cells." "Unknown" "yes" "rs201119959" "0" "" "" "g.15331315T>A" "" "pathogenic" "" "0000052313" "0" "90" "X" "15349698" "15349698" "subst" "0" "00081" "PIGA_000037" "g.15349698G>A" "" "{PMID:Kato et al 2014:24706016}" "" "" "Variant at a highly conserved residue. It was absent in was not found in the Exome Variant Server database or in 573 control exomes." "Unknown" "yes" "rs587777396" "0" "" "" "g.15331576G>A" "" "pathogenic" "" "0000052314" "0" "90" "X" "15342943" "15342945" "del" "0" "00081" "PIGA_000038" "g.15342943_15342945del" "" "{PMID:Swoboda et al 2014:24259288 }" "" "" "This variant was not found in the 1000 Genomes Project or Exome Variant Server databases. CD59 surface expression was normal in red blood cells, however, other GPI-anchored proteins were reduced in granulocytes." "Germline" "yes" "rs587777399" "0" "" "" "g.15324821_15324823del" "" "pathogenic" "" "0000052315" "0" "90" "X" "15349775" "15349775" "subst" "0" "00081" "PIGA_000039" "g.15349775G>A" "" "{PMID:van der Crabben et al 2014: 24259184}" "" "" "This variant was not found in the dbSNP or Exome Variant Server databases, or in 100 in-house control exomes. No functional studies were performed." "Germline" "yes" "rs587777400" "0" "" "" "g.15331653G>A" "" "pathogenic" "" "0000165268" "21" "70" "X" "15349955" "15349955" "subst" "0" "01864" "PIGA_000040" "g.15349955T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.15331833T>C" "" "likely pathogenic" "" "0000300756" "0" "90" "X" "15349775" "15349775" "subst" "0" "02326" "PIGA_000039" "g.15349775G>A" "" "" "" "PIGA(NM_002641.3):c.278C>T (p.P93L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15331653G>A" "" "pathogenic" "" "0000300757" "0" "10" "X" "15349998" "15349998" "subst" "0.0302108" "02326" "PIGA_000046" "g.15349998G>A" "" "" "" "PIGA(NM_002641.3):c.55C>T (p.R19W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15331876G>A" "" "benign" "" "0000300759" "0" "30" "X" "15343345" "15343345" "subst" "0" "02326" "PIGA_000041" "g.15343345C>T" "" "" "" "PIGA(NM_002641.3):c.849-71G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15325223C>T" "" "likely benign" "" "0000305600" "0" "50" "X" "15349992" "15349992" "subst" "5.61044E-6" "01943" "PIGA_000045" "g.15349992T>C" "" "" "" "PIGA(NM_002641.3):c.61A>G (p.S21G, p.(Ser21Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15331870T>C" "" "VUS" "" "0000305601" "0" "50" "X" "15349388" "15349388" "subst" "1.12375E-5" "01943" "PIGA_000043" "g.15349388C>T" "" "" "" "PIGA(NM_002641.3):c.665G>A (p.R222K, p.(Arg222Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15331266C>T" "" "VUS" "" "0000333236" "0" "50" "X" "15349388" "15349388" "subst" "1.12375E-5" "01804" "PIGA_000043" "g.15349388C>T" "" "" "" "PIGA(NM_002641.3):c.665G>A (p.R222K, p.(Arg222Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15331266C>T" "" "VUS" "" "0000333237" "0" "50" "X" "15349467" "15349467" "subst" "0" "01804" "PIGA_000044" "g.15349467C>T" "" "" "" "PIGA(NM_002641.4):c.586G>A (p.(Ala196Thr), p.A196T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15331345C>T" "" "VUS" "" "0000333238" "0" "50" "X" "15349992" "15349992" "subst" "5.61044E-6" "01804" "PIGA_000045" "g.15349992T>C" "" "" "" "PIGA(NM_002641.3):c.61A>G (p.S21G, p.(Ser21Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15331870T>C" "" "VUS" "" "0000344352" "0" "90" "X" "15343152" "15343152" "subst" "0" "02327" "PIGA_000048" "g.15343152C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15325030C>A" "" "pathogenic" "" "0000346067" "0" "30" "X" "15339822" "15339822" "subst" "5.59888E-6" "02327" "PIGA_000047" "g.15339822C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15321700C>T" "" "likely benign" "" "0000350572" "0" "50" "X" "15349908" "15349908" "subst" "0" "02327" "PIGA_000049" "g.15349908C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15331786C>T" "" "VUS" "" "0000356914" "3" "70" "X" "15349629" "15349629" "subst" "0" "01807" "PIGA_000053" "g.15349629C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.15331507C>T" "" "likely pathogenic" "" "0000356929" "21" "70" "X" "15349626" "15349626" "subst" "0" "00081" "PIGA_000050" "g.15349626T>C" "" "{PMID:Kim et al. 2016:26923721}" "" "" "" "Germline" "" "" "0" "" "" "g.15331504T>C" "" "likely pathogenic" "" "0000356958" "21" "70" "X" "15342986" "15342986" "subst" "0" "00081" "PIGA_000051" "g.15342986C>T" "" "{PMID:Tarailo-Graovac et al. 2015:25885527}" "" "" "" "Germline" "yes" "" "0" "" "" "g.15324864C>T" "" "likely pathogenic" "" "0000357611" "21" "70" "X" "15349518" "15349518" "subst" "0" "00081" "PIGA_000052" "g.15349518T>A" "" "{PMID:Joshi et al. 2016:27126216}" "" "" "" "Germline" "yes" "" "0" "" "" "g.15331396T>A" "" "likely pathogenic" "" "0000357612" "21" "70" "X" "15349518" "15349518" "subst" "0" "00081" "PIGA_000052" "g.15349518T>A" "" "{PMID:Joshi et al. 2016:27126216}" "" "" "" "Germline" "yes" "" "0" "" "" "g.15331396T>A" "" "likely pathogenic" "" "0000393211" "1" "50" "X" "15349440" "15349440" "subst" "0" "00124" "PIGA_000054" "g.15349440C>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.15331318C>T" "" "VUS" "" "0000393212" "21" "70" "X" "15349979" "15349979" "dup" "0" "01173" "PIGA_000002" "g.15349979dup" "" "{PMID:Claes 1997:09307258}" "" "76dupT" "" "Germline" "" "" "0" "" "" "g.15331857dup" "" "likely pathogenic" "" "0000438269" "0" "90" "X" "15343279" "15343279" "subst" "0" "00081" "PIGA_000055" "g.15343279T>C" "" "" "" "" "Nonsense mutation" "Germline" "" "" "0" "" "" "g.15325157T>C" "" "pathogenic" "" "0000438273" "0" "90" "X" "15343279" "15343279" "subst" "0" "00081" "PIGA_000055" "g.15343279T>C" "" "" "" "" "Nonsense mutation.\r\nThe single‐nucleotide substitution is located in intron 3 of the PIGA gene and within the splice acceptor consensus sequence. In silico tools predict that this intronic variant may alter normal splicing, causing a four base pair insertion which creates a frameshift and a premature stop codon at position 297" "Germline" "" "" "0" "" "" "g.15325157T>C" "" "pathogenic" "" "0000438274" "0" "90" "X" "15343279" "15343279" "subst" "0" "00081" "PIGA_000055" "g.15343279T>C" "" "" "" "" "Nonsense mutation. \r\nThe single‐nucleotide substitution is located in intron 3 of the PIGA gene and within the splice acceptor consensus sequence.In silico tools predict that this intronic variant may alter normal splicing, causing a four base pair insertion which creates a frameshift and a premature stop codon at position 297." "Germline" "" "" "0" "" "" "g.15325157T>C" "" "pathogenic" "" "0000438414" "0" "90" "X" "15349697" "15349697" "subst" "0" "00081" "PIGA_000056" "g.15349697C>T" "" "" "" "" "Patient\'s mother and aunt are carriers of the variant" "Germline" "" "" "0" "" "" "g.15331575C>T" "" "pathogenic" "" "0000438416" "0" "90" "X" "15349943" "15349943" "subst" "0" "00081" "PIGA_000057" "g.15349943A>G" "" "" "" "" "Hemizygous. Parents did not carry the mutation. A minor allele frequency (MAF) <0.01 and the mutation was predicted by Polyphen2, SIFT, and Mutation Taster to be damaging on protein function." "Germline/De novo (untested)" "" "" "0" "" "" "g.15331821A>G" "" "pathogenic" "" "0000438431" "0" "90" "X" "15349943" "15349943" "subst" "0" "00081" "PIGA_000057" "g.15349943A>G" "" "" "" "" "Hemizygous. Parents did not carry the mutation. A minor allele frequency (MAF) <0.01 and the mutation was predicted by Polyphen2, SIFT, and Mutation Taster to be damaging on protein function." "Germline/De novo (untested)" "" "" "0" "" "" "g.15331821A>G" "" "pathogenic" "" "0000438433" "0" "90" "X" "15349760" "15349760" "subst" "0" "00081" "PIGA_000058" "g.15349760T>G" "" "" "" "PIGA (NM_002641.3) c.293A > C p. (Tyr98Ser)" "Missense variant. This variant affects a highly conserved amino acid in a known functional domain of PIGA and causes a physiochemical change which is predicted in silico to be pathogenic (Polyphen-Probably damaging 0.976; SIFT-deleterious 0.01)." "Germline" "" "" "0" "" "" "g.15331638T>G" "" "pathogenic" "" "0000438434" "0" "90" "X" "15342911" "15342911" "subst" "0" "00081" "PIGA_000059" "g.15342911A>G" "" "" "" "" "Heterozygous mutation." "De novo" "" "" "0" "" "" "g.15324789A>G" "" "pathogenic" "" "0000438435" "21" "90" "X" "15339849" "15339849" "subst" "0" "00081" "PIGA_000033" "g.15339849G>A" "" "" "" "" "Hemizygous" "Germline" "" "" "0" "" "" "g.15321727G>A" "" "pathogenic" "" "0000438436" "21" "90" "X" "15339849" "15339849" "subst" "0" "00081" "PIGA_000033" "g.15339849G>A" "" "" "" "" "Hemizygous mutation." "Germline" "" "" "0" "" "" "g.15321727G>A" "" "pathogenic" "" "0000438437" "21" "90" "X" "15339849" "15339849" "subst" "0" "00081" "PIGA_000033" "g.15339849G>A" "" "" "" "" "Hemizygous mutation" "Germline" "" "" "0" "" "" "g.15321727G>A" "" "pathogenic" "" "0000438438" "21" "90" "X" "15349763" "15349763" "subst" "0" "00081" "PIGA_000060" "g.15349763A>T" "" "" "" "c.290T>A p.(Met97Lys) (hem) [NM_002641.3]" "Hemizygous mutation" "Germline" "" "" "0" "" "" "g.15331641A>T" "" "pathogenic" "" "0000438491" "0" "77" "X" "15349908" "15349908" "subst" "0" "00081" "PIGA_000049" "g.15349908C>T" "" "{PMID:Knaus et al. 2018:29310717}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15331786C>T" "" "likely pathogenic" "" "0000438492" "0" "77" "X" "15349824" "15349824" "subst" "0" "00081" "PIGA_000061" "g.15349824G>C" "" "{PMID:Knaus et al. 2018:29310717}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15331702G>C" "" "likely pathogenic" "" "0000438493" "0" "77" "X" "15349817" "15349817" "subst" "0" "00081" "PIGA_000062" "g.15349817C>A" "" "{PMID:Knaus et al. 2018:29310717}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15331695C>A" "" "likely pathogenic" "" "0000438494" "0" "77" "X" "15349811" "15349811" "subst" "0" "00081" "PIGA_000063" "g.15349811C>T" "" "{PMID:Knaus et al. 2018:29310717}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15331689C>T" "" "likely pathogenic" "" "0000438495" "0" "77" "X" "15349649" "15349649" "subst" "0" "00081" "PIGA_000064" "g.15349649G>A" "" "{PMID:Knaus et al. 2018:29310717}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15331527G>A" "" "likely pathogenic" "" "0000439009" "0" "77" "X" "15349572" "15349572" "subst" "0" "00081" "PIGA_000065" "g.15349572C>T" "" "{PMID:Knaus et al. 2018:29310717}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15331450C>T" "" "likely pathogenic" "" "0000439010" "0" "77" "X" "15349488" "15349488" "subst" "0" "00081" "PIGA_000066" "g.15349488T>C" "" "{PMID:Knaus et al. 2018:29310717}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15331366T>C" "" "likely pathogenic" "" "0000439011" "0" "77" "X" "15343152" "15343152" "subst" "0" "00081" "PIGA_000048" "g.15343152C>A" "" "{PMID:Knaus et al. 2018:29310717}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15325030C>A" "" "likely pathogenic" "" "0000439012" "0" "77" "X" "15339731" "15339731" "subst" "0" "00081" "PIGA_000067" "g.15339731A>G" "" "{PMID:Knaus et al. 2018:29310717}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15321609A>G" "" "likely pathogenic" "" "0000439013" "0" "77" "X" "15339729" "15339729" "subst" "0" "00081" "PIGA_000068" "g.15339729C>A" "" "{PMID:Knaus et al. 2018:29310717}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15321607C>A" "" "likely pathogenic" "" "0000574595" "0" "50" "X" "15333643" "15333643" "subst" "0" "01943" "ASB11_000021" "g.15333643T>C" "" "" "" "ASB11(NM_080873.2):c.85A>G (p.K29E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15315521T>C" "" "VUS" "" "0000574599" "0" "50" "X" "15339753" "15339753" "subst" "0" "01943" "PIGA_000069" "g.15339753A>C" "" "" "" "PIGA(NM_002641.3):c.1330T>G (p.W444G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15321631A>C" "" "VUS" "" "0000574615" "0" "30" "X" "15343134" "15343134" "subst" "0.000303639" "02326" "PIGA_000070" "g.15343134C>T" "" "" "" "PIGA(NM_002641.3):c.981+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15325012C>T" "" "likely benign" "" "0000574616" "0" "30" "X" "15343402" "15343403" "dup" "0" "02326" "PIGA_000071" "g.15343402_15343403dup" "" "" "" "PIGA(NM_002641.3):c.849-129_849-128dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15325280_15325281dup" "" "likely benign" "" "0000574652" "0" "30" "X" "15349561" "15349561" "subst" "1.11991E-5" "01943" "PIGA_000072" "g.15349561C>T" "" "" "" "PIGA(NM_002641.3):c.492G>A (p.S164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15331439C>T" "" "likely benign" "" "0000574655" "0" "50" "X" "15349740" "15349740" "subst" "0" "02327" "PIGA_000073" "g.15349740T>G" "" "" "" "PIGA(NM_002641.4):c.313A>C (p.T105P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15331618T>G" "" "VUS" "" "0000574656" "0" "50" "X" "15349805" "15349805" "subst" "0" "01943" "PIGA_000074" "g.15349805A>G" "" "" "" "PIGA(NM_002641.3):c.248T>C (p.L83P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15331683A>G" "" "VUS" "" "0000574657" "0" "50" "X" "15349823" "15349823" "subst" "0" "02325" "PIGA_000075" "g.15349823C>T" "" "" "" "PIGA(NM_002641.4):c.230G>A (p.(Arg77Gln), p.R77Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15331701C>T" "" "VUS" "" "0000574658" "0" "70" "X" "15349871" "15349871" "subst" "0" "02327" "PIGA_000076" "g.15349871A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15331749A>G" "" "likely pathogenic" "" "0000574659" "0" "50" "X" "15349997" "15349997" "subst" "0" "01943" "PIGA_000077" "g.15349997C>T" "" "" "" "PIGA(NM_002641.3):c.56G>A (p.R19Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15331875C>T" "" "VUS" "" "0000574661" "0" "30" "X" "15353635" "15353635" "subst" "0.000292912" "01804" "PIGA_000079" "g.15353635T>C" "" "" "" "PIGA(NM_002641.3):c.-75A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15335513T>C" "" "likely benign" "" "0000619226" "0" "30" "X" "15333546" "15333546" "subst" "0.000371352" "01943" "ASB11_000022" "g.15333546C>T" "" "" "" "ASB11(NM_080873.2):c.181+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15315424C>T" "" "likely benign" "" "0000619228" "0" "30" "X" "15339662" "15339662" "subst" "0.000123166" "01943" "PIGA_000080" "g.15339662C>A" "" "" "" "PIGA(NM_002641.3):c.1421G>T (p.G474V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15321540C>A" "" "likely benign" "" "0000619229" "0" "30" "X" "15339662" "15339662" "subst" "0.000123166" "02326" "PIGA_000080" "g.15339662C>A" "" "" "" "PIGA(NM_002641.3):c.1421G>T (p.G474V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15321540C>A" "" "likely benign" "" "0000619230" "0" "50" "X" "15339881" "15339881" "subst" "0" "02327" "PIGA_000081" "g.15339881A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15321759A>C" "" "VUS" "" "0000619235" "0" "30" "X" "15343190" "15343190" "subst" "1.1433E-5" "01943" "PIGA_000083" "g.15343190A>G" "" "" "" "PIGA(NM_002641.3):c.933T>C (p.T311=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15325068A>G" "" "likely benign" "" "0000619236" "0" "30" "X" "15344178" "15344178" "subst" "0.000123547" "01943" "PIGA_000084" "g.15344178T>C" "" "" "" "PIGA(NM_002641.3):c.716-10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15326056T>C" "" "likely benign" "" "0000624502" "0" "30" "X" "15343169" "15343169" "subst" "0" "02326" "PIGA_000082" "g.15343169G>A" "" "" "" "PIGA(NM_002641.3):c.954C>T (p.I318=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15325047G>A" "" "likely benign" "" "0000624503" "0" "30" "X" "15349989" "15349989" "subst" "1.12123E-5" "01943" "PIGA_000085" "g.15349989G>A" "" "" "" "PIGA(NM_002641.3):c.64C>T (p.P22S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15331867G>A" "" "likely benign" "" "0000652828" "1" "10" "X" "15349998" "15349998" "subst" "0.0302108" "03575" "PIGA_000046" "g.15349998G>A" "66/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "66 heterozygous; {DB:CLININexm1629306}" "Germline" "" "" "0" "" "" "g.15331876G>A" "" "benign" "" "0000659190" "0" "30" "X" "15339663" "15339663" "subst" "0.000375024" "02326" "PIGA_000086" "g.15339663C>T" "" "" "" "PIGA(NM_002641.3):c.1420G>A (p.G474R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15321541C>T" "" "likely benign" "" "0000670090" "0" "10" "X" "15349998" "15349998" "subst" "0.0302108" "03575" "PIGA_000046" "g.15349998G>A" "44/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "44 homozygous; {DB:CLININexm1629306}" "Germline" "" "" "0" "" "" "g.15331876G>A" "" "benign" "" "0000682251" "0" "30" "X" "15343134" "15343134" "subst" "0.000303639" "01943" "PIGA_000070" "g.15343134C>T" "" "" "" "PIGA(NM_002641.3):c.981+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000698158" "0" "90" "X" "15339731" "15339731" "subst" "0" "00006" "PIGA_000067" "g.15339731A>G" "" "{PMID:Zhu 2015:25590979}" "" "" "" "De novo" "" "" "0" "" "" "g.15321609A>G" "" "pathogenic" "" "0000710194" "20" "90" "X" "15349697" "15349697" "subst" "0" "00006" "PIGA_000056" "g.15349697C>T" "" "{PMID:Hong 2020:33333793}" "" "" "" "Germline" "" "" "0" "" "" "g.15331575C>T" "" "pathogenic" "" "0000728619" "0" "50" "X" "15333621" "15333621" "subst" "7.91563E-5" "01943" "ASB11_000024" "g.15333621G>T" "" "" "" "ASB11(NM_080873.2):c.107C>A (p.T36N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728623" "0" "30" "X" "15349669" "15349669" "subst" "6.72427E-5" "01943" "PIGA_000087" "g.15349669A>G" "" "" "" "PIGA(NM_002641.3):c.384T>C (p.H128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810124" "0" "30" "X" "15349440" "15349440" "subst" "0" "02327" "PIGA_000054" "g.15349440C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810125" "0" "50" "X" "15353623" "15353623" "subst" "0" "02325" "PIGA_000088" "g.15353623C>T" "" "" "" "PIGA(NM_002641.4):c.-63G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856440" "0" "70" "X" "15349900" "15349900" "del" "0" "01804" "PIGA_000089" "g.15349900del" "" "" "" "PIGA(NM_002641.3):c.154del (p.(His52Thrfs*9))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000908554" "0" "90" "X" "15344061" "15344061" "subst" "0" "00006" "PIGA_000090" "g.15344061G>A" "" "{PMID:Zhou 2018:29314583}" "" "R41W" "" "De novo" "" "" "0" "" "" "g.15325939G>A" "" "pathogenic" "ACMG" "0000927290" "0" "50" "X" "15349467" "15349467" "subst" "0" "02325" "PIGA_000044" "g.15349467C>T" "" "" "" "PIGA(NM_002641.4):c.586G>A (p.(Ala196Thr), p.A196T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000959725" "0" "70" "X" "15349551" "15349551" "subst" "0" "00006" "PIGA_000091" "g.15349551T>G" "" "{PMID:Ostrander 2018:30109124}" "" "" "ACMG PS2, PM2, PP3" "De novo" "" "" "0" "" "" "g.15331429T>G" "" "likely pathogenic (dominant)" "ACMG" "0000970907" "0" "50" "X" "15349740" "15349740" "subst" "0" "02329" "PIGA_000073" "g.15349740T>G" "" "" "" "PIGA(NM_002641.4):c.313A>C (p.T105P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000971616" "21" "50" "X" "15349865" "15349865" "subst" "0" "01164" "PIGA_000093" "g.15349865C>G" "" "" "" "" "ACMG: PM1, PS4_SUP, PM2_SUP, PP1" "Germline" "?" "" "" "" "" "g.15331743C>G" "VCV002844498.1" "VUS (!)" "ACMG" "0000972024" "21" "50" "X" "15349595" "15349595" "subst" "0" "01164" "PIGA_000094" "g.15349595T>A" "" "" "" "" "ACMG: PM1, PP3_MOD, PM2_SUP" "Germline" "?" "" "" "" "" "g.15331473T>A" "" "VUS" "ACMG" "0000984549" "0" "30" "X" "15333607" "15333607" "subst" "0.000120005" "01804" "ASB11_000025" "g.15333607C>T" "" "" "" "ASB11(NM_080873.3):c.121G>A (p.(Val41Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984551" "0" "30" "X" "15349635" "15349635" "subst" "0" "01804" "PIGA_000095" "g.15349635A>G" "" "" "" "PIGA(NM_002641.4):c.418T>C (p.(Phe140Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006563" "0" "10" "X" "15349998" "15349998" "subst" "0.0302108" "02327" "PIGA_000046" "g.15349998G>A" "" "" "" "PIGA(NM_002641.3):c.55C>T (p.R19W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001006564" "0" "50" "X" "15353628" "15353628" "subst" "0" "01804" "PIGA_000096" "g.15353628A>G" "" "" "" "PIGA(NM_002641.3):c.-68T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001029725" "21" "70" "X" "15353622" "15353622" "subst" "0" "04409" "PIGA_000097" "g.15353622C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.15335500C>T" "" "VUS" "ACMG" "0001044196" "0" "90" "X" "15349823" "15349823" "subst" "0" "01804" "PIGA_000075" "g.15349823C>T" "" "" "" "PIGA(NM_002641.4):c.230G>A (p.(Arg77Gln), p.R77Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001044197" "0" "30" "X" "15350121" "15350121" "subst" "0" "01804" "PIGA_000098" "g.15350121A>G" "" "" "" "PIGA(NM_002641.4):c.-62-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001049047" "21" "90" "X" "15349986" "15349986" "dup" "0" "00006" "PIGA_000099" "g.15349986dup" "" "{PMID:Soden 2014:25473036}" "" "ref?:c.68dupG" "" "Germline" "" "" "0" "" "" "g.15331864dup" "" "pathogenic (recessive)" "" "0001058996" "0" "70" "X" "15349697" "15349697" "subst" "0" "00006" "PIGA_000056" "g.15349697C>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.15331575C>T" "" "likely pathogenic" "" ## 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 PIGA ## Count = 116 "{{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}}" "0000001801" "00000600" "50" "3233" "0" "3233" "0" "c.*1778dup" "r.(=)" "p.(=)" "" "0000001802" "00000600" "50" "849" "-129" "849" "-128" "c.849-129_849-128dup" "r.(=)" "p.(=)" "" "0000002800" "00000600" "50" "3233" "0" "3233" "0" "c.*1778dup" "r.(=)" "p.(=)" "" "0000002801" "00000600" "50" "849" "-129" "849" "-128" "c.849-129_849-128dup" "r.(=)" "p.(=)" "" "0000006366" "00000600" "50" "3469" "0" "3469" "0" "c.*2014A>G" "r.(=)" "p.(=)" "" "0000006367" "00000600" "50" "3201" "0" "3201" "0" "c.*1746T>A" "r.(=)" "p.(=)" "" "0000006368" "00000600" "50" "3081" "0" "3081" "0" "c.*1626T>C" "r.(=)" "p.(=)" "" "0000006369" "00000600" "50" "-63" "140" "-63" "140" "c.-63+140C>G" "r.(=)" "p.(=)" "" "0000008429" "00000600" "50" "3469" "0" "3469" "0" "c.*2014A>G" "r.(=)" "p.(=)" "" "0000008430" "00000600" "50" "3233" "0" "3233" "0" "c.*1778dup" "r.(=)" "p.(=)" "" "0000008431" "00000600" "50" "3201" "0" "3201" "0" "c.*1746T>A" "r.(=)" "p.(=)" "" "0000008432" "00000600" "50" "3081" "0" "3081" "0" "c.*1626T>C" "r.(=)" "p.(=)" "" "0000008433" "00000600" "50" "849" "-129" "849" "-128" "c.849-129_849-128dup" "r.(=)" "p.(=)" "" "0000010805" "00000600" "50" "3233" "0" "3233" "0" "c.*1778dup" "r.(=)" "p.(=)" "" "0000010806" "00000600" "50" "849" "-129" "849" "-128" "c.849-129_849-128dup" "r.(=)" "p.(=)" "" "0000014325" "00000600" "50" "715" "168" "715" "168" "c.715+168C>A" "r.(=)" "p.(=)" "" "0000014326" "00000600" "50" "-63" "140" "-63" "140" "c.-63+140C>G" "r.(=)" "p.(=)" "" "0000052299" "00000600" "00" "1355" "0" "1356" "0" "c.1355_1356insAA" "r.(?)" "p.(Asp452Glufs*5)" "6" "0000052300" "00000600" "00" "1325" "0" "1356" "0" "c.1325_1356dup" "r.(?)" "p.(Val453*)" "6" "0000052301" "00000600" "00" "211" "0" "211" "0" "c.211A>G" "r.(?)" "p.(Thr71Ala)" "2" "0000052302" "00000600" "00" "251" "0" "251" "0" "c.251C>T" "r.(?)" "p.(Thr84Ile)" "2" "0000052303" "00000600" "00" "16" "0" "16" "0" "c.16G>T" "r.(?)" "p.(Gly6*)" "2" "0000052305" "00000600" "90" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "6" "0000052306" "00000600" "90" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "6" "0000052307" "00000600" "90" "76" "0" "76" "0" "c.76dup" "r.(?)" "p.(Tyr26Leufs*4)" "" "0000052311" "00000600" "00" "230" "0" "230" "0" "c.230G>T" "r.(?)" "p.(Arg77Leu)" "2" "0000052312" "00000600" "90" "616" "0" "616" "0" "c.616A>T" "r.(?)" "p.(Ile206Phe)" "2" "0000052313" "00000600" "90" "355" "0" "355" "0" "c.355C>T" "r.(?)" "p.(Arg119Trp)" "2" "0000052314" "00000600" "90" "1030" "0" "1032" "0" "c.1030_1032del" "r.(?)" "p.(Leu344del)" "4" "0000052315" "00000600" "90" "278" "0" "278" "0" "c.278C>T" "r.(?)" "p.(Pro93Leu)" "" "0000165268" "00000600" "70" "98" "0" "98" "0" "c.98A>G" "r.(?)" "p.(His33Arg)" "2" "0000300756" "00000600" "90" "278" "0" "278" "0" "c.278C>T" "r.(?)" "p.(Pro93Leu)" "" "0000300757" "00000600" "10" "55" "0" "55" "0" "c.55C>T" "r.(?)" "p.(Arg19Trp)" "" "0000300759" "00000600" "30" "849" "-71" "849" "-71" "c.849-71G>A" "r.(=)" "p.(=)" "" "0000305600" "00000600" "50" "61" "0" "61" "0" "c.61A>G" "r.(?)" "p.(Ser21Gly)" "" "0000305601" "00000600" "50" "665" "0" "665" "0" "c.665G>A" "r.(?)" "p.(Arg222Lys)" "" "0000333236" "00000600" "50" "665" "0" "665" "0" "c.665G>A" "r.(?)" "p.(Arg222Lys)" "" "0000333237" "00000600" "50" "586" "0" "586" "0" "c.586G>A" "r.(?)" "p.(Ala196Thr)" "" "0000333238" "00000600" "50" "61" "0" "61" "0" "c.61A>G" "r.(?)" "p.(Ser21Gly)" "" "0000344352" "00000600" "90" "971" "0" "971" "0" "c.971G>T" "r.(?)" "p.(Cys324Phe)" "" "0000346067" "00000600" "30" "1261" "0" "1261" "0" "c.1261G>A" "r.(?)" "p.(Gly421Ser)" "" "0000350572" "00000600" "50" "145" "0" "145" "0" "c.145G>A" "r.(?)" "p.(Val49Met)" "" "0000356914" "00000600" "70" "424" "0" "424" "0" "c.424G>A" "r.(?)" "p.(Ala142Thr)" "" "0000356929" "00000600" "70" "427" "0" "427" "0" "c.427A>G" "r.(?)" "p.(Lys143Glu)" "" "0000356958" "00000600" "70" "989" "0" "989" "0" "c.989G>A" "r.(?)" "p.(Ser330Asn)" "" "0000357611" "00000600" "70" "535" "0" "535" "0" "c.535A>T" "r.(?)" "p.(Asn179Tyr)" "" "0000357612" "00000600" "70" "535" "0" "535" "0" "c.535A>T" "r.(?)" "p.(Asn179Tyr)" "" "0000393211" "00000600" "50" "613" "0" "613" "0" "c.613G>A" "r.(?)" "p.(Val205Ile)" "" "0000393212" "00000600" "00" "76" "0" "76" "0" "c.76dup" "r.(?)" "p.(Tyr26Leufs*4)" "" "0000438269" "00000600" "90" "849" "-5" "849" "-5" "c.849-5A>G" "r.spl?" "p.(Arg283Serfs*15)" "" "0000438273" "00000600" "90" "849" "-5" "849" "-5" "c.849-5A>G" "r.spl?" "p.(Arg283Serfs*15)" "" "0000438274" "00000600" "90" "849" "-5" "849" "-5" "c.849-5A>G" "r.spl?" "p.(Arg283Serfs*15)" "" "0000438414" "00000600" "90" "356" "0" "356" "0" "c.356G>A" "r.(?)" "p.(Arg119Gln)" "" "0000438416" "00000600" "90" "110" "0" "110" "0" "c.110T>C" "r.(?)" "p.(Met37Thr)" "" "0000438431" "00000600" "90" "110" "0" "110" "0" "c.110T>C" "r.(?)" "p.(Met37Thr)" "2" "0000438433" "00000600" "90" "293" "0" "293" "0" "c.293A>C" "r.(?)" "p.(Tyr98Ser)" "" "0000438434" "00000600" "90" "1064" "0" "1064" "0" "c.1064T>C" "r.(?)" "p.(Leu355Ser)" "" "0000438435" "00000600" "90" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "" "0000438436" "00000600" "90" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "" "0000438437" "00000600" "90" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "6" "0000438438" "00000600" "90" "290" "0" "290" "0" "c.290T>A" "r.(?)" "p.(Met97Lys)" "" "0000438491" "00000600" "77" "145" "0" "145" "0" "c.145G>A" "r.(?)" "p.(Val49Met)" "" "0000438492" "00000600" "77" "229" "0" "229" "0" "c.229C>G" "r.(?)" "p.(Arg77Gly)" "" "0000438493" "00000600" "77" "236" "0" "236" "0" "c.236G>T" "r.(?)" "p.(Gly79Val)" "" "0000438494" "00000600" "77" "242" "0" "242" "0" "c.242G>A" "r.(?)" "p.(Arg81His)" "" "0000438495" "00000600" "77" "404" "0" "404" "0" "c.404C>T" "r.(?)" "p.(Ala135Val)" "" "0000439009" "00000600" "77" "481" "0" "481" "0" "c.481G>A" "r.(?)" "p.(Asp161Asn)" "" "0000439010" "00000600" "77" "565" "0" "565" "0" "c.565A>G" "r.(?)" "p.(Lys189Glu)" "" "0000439011" "00000600" "77" "971" "0" "971" "0" "c.971G>T" "r.(?)" "p.(Cys324Phe)" "" "0000439012" "00000600" "77" "1352" "0" "1352" "0" "c.1352T>C" "r.(?)" "p.(Ile451Thr)" "" "0000439013" "00000600" "77" "1354" "0" "1354" "0" "c.1354G>T" "r.(?)" "p.(Asp452Tyr)" "" "0000574595" "00000600" "50" "7440" "0" "7440" "0" "c.*5985A>G" "r.(=)" "p.(=)" "" "0000574599" "00000600" "50" "1330" "0" "1330" "0" "c.1330T>G" "r.(?)" "p.(Trp444Gly)" "" "0000574615" "00000600" "30" "981" "8" "981" "8" "c.981+8G>A" "r.(=)" "p.(=)" "" "0000574616" "00000600" "30" "849" "-129" "849" "-128" "c.849-129_849-128dup" "r.(=)" "p.(=)" "" "0000574652" "00000600" "30" "492" "0" "492" "0" "c.492G>A" "r.(?)" "p.(Ser164=)" "" "0000574655" "00000600" "50" "313" "0" "313" "0" "c.313A>C" "r.(?)" "p.(Thr105Pro)" "" "0000574656" "00000600" "50" "248" "0" "248" "0" "c.248T>C" "r.(?)" "p.(Leu83Pro)" "" "0000574657" "00000600" "50" "230" "0" "230" "0" "c.230G>A" "r.(?)" "p.(Arg77Gln)" "" "0000574658" "00000600" "70" "182" "0" "182" "0" "c.182T>C" "r.(?)" "p.(Ile61Thr)" "" "0000574659" "00000600" "50" "56" "0" "56" "0" "c.56G>A" "r.(?)" "p.(Arg19Gln)" "" "0000574661" "00000600" "30" "-75" "0" "-75" "0" "c.-75A>G" "r.(?)" "p.(=)" "" "0000619226" "00000600" "30" "7537" "0" "7537" "0" "c.*6082G>A" "r.(=)" "p.(=)" "" "0000619228" "00000600" "30" "1421" "0" "1421" "0" "c.1421G>T" "r.(?)" "p.(Gly474Val)" "" "0000619229" "00000600" "30" "1421" "0" "1421" "0" "c.1421G>T" "r.(?)" "p.(Gly474Val)" "" "0000619230" "00000600" "50" "1202" "0" "1202" "0" "c.1202T>G" "r.(?)" "p.(Val401Gly)" "" "0000619235" "00000600" "30" "933" "0" "933" "0" "c.933T>C" "r.(?)" "p.(Thr311=)" "" "0000619236" "00000600" "30" "716" "-10" "716" "-10" "c.716-10A>G" "r.(=)" "p.(=)" "" "0000624502" "00000600" "30" "954" "0" "954" "0" "c.954C>T" "r.(?)" "p.(Ile318=)" "" "0000624503" "00000600" "30" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Pro22Ser)" "" "0000652828" "00000600" "10" "55" "0" "55" "0" "c.55C>T" "r.(?)" "p.(Arg19Trp)" "" "0000659190" "00000600" "30" "1420" "0" "1420" "0" "c.1420G>A" "r.(?)" "p.(Gly474Arg)" "" "0000670090" "00000600" "10" "55" "0" "55" "0" "c.55C>T" "r.(?)" "p.(Arg19Trp)" "" "0000682251" "00000600" "30" "981" "8" "981" "8" "c.981+8G>A" "r.(=)" "p.(=)" "" "0000698158" "00000600" "90" "1352" "0" "1352" "0" "c.1352T>C" "r.(?)" "p.(Ile451Thr)" "" "0000710194" "00000600" "90" "356" "0" "356" "0" "c.356G>A" "r.(?)" "p.(Arg119Gln)" "" "0000728619" "00000600" "50" "7462" "0" "7462" "0" "c.*6007C>A" "r.(=)" "p.(=)" "" "0000728623" "00000600" "30" "384" "0" "384" "0" "c.384T>C" "r.(?)" "p.(His128=)" "" "0000810124" "00000600" "30" "613" "0" "613" "0" "c.613G>A" "r.(?)" "p.(Val205Ile)" "" "0000810125" "00000600" "50" "-63" "0" "-63" "0" "c.-63G>A" "r.(?)" "p.(=)" "" "0000856440" "00000600" "70" "154" "0" "154" "0" "c.154del" "r.(?)" "p.(His52Thrfs*9)" "" "0000908554" "00000600" "90" "823" "0" "823" "0" "c.823C>T" "r.(?)" "p.(Arg275Trp)" "" "0000927290" "00000600" "50" "586" "0" "586" "0" "c.586G>A" "r.(?)" "p.(Ala196Thr)" "" "0000959725" "00000600" "70" "502" "0" "502" "0" "c.502A>C" "r.(?)" "p.(Asn168His)" "" "0000970907" "00000600" "50" "313" "0" "313" "0" "c.313A>C" "r.(?)" "p.(Thr105Pro)" "" "0000971616" "00000600" "50" "188" "0" "188" "0" "c.188G>C" "r.(?)" "p.(Arg63Thr)" "" "0000972024" "00000600" "50" "458" "0" "458" "0" "c.458A>T" "r.(?)" "p.(Asp153Val)" "" "0000984549" "00000600" "30" "7476" "0" "7476" "0" "c.*6021G>A" "r.(=)" "p.(=)" "" "0000984551" "00000600" "30" "418" "0" "418" "0" "c.418T>C" "r.(?)" "p.(Phe140Leu)" "" "0001006563" "00000600" "10" "55" "0" "55" "0" "c.55C>T" "r.(?)" "p.(Arg19Trp)" "" "0001006564" "00000600" "50" "-68" "0" "-68" "0" "c.-68T>C" "r.(?)" "p.(=)" "" "0001029725" "00000600" "70" "-63" "1" "-63" "1" "c.-63+1G>A" "r.-63_-62ins[A;-63+2_-63+146]" "p.?" "1i" "0001044196" "00000600" "90" "230" "0" "230" "0" "c.230G>A" "r.(?)" "p.(Arg77Gln)" "" "0001044197" "00000600" "30" "-62" "-7" "-62" "-7" "c.-62-7T>C" "r.(=)" "p.(=)" "" "0001049047" "00000600" "90" "68" "0" "68" "0" "c.68dupG" "r.(?)" "p.(Ser24LysfsTer6)" "" "0001058996" "00000600" "70" "356" "0" "356" "0" "c.356G>A" "r.(?)" "p.(Arg119Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 61 "{{screeningid}}" "{{variantid}}" "0000000209" "0000001801" "0000000209" "0000001802" "0000000209" "0000002800" "0000000209" "0000002801" "0000000209" "0000006366" "0000000209" "0000006367" "0000000209" "0000006368" "0000000209" "0000006369" "0000000210" "0000008429" "0000000210" "0000008430" "0000000210" "0000008431" "0000000210" "0000008432" "0000000210" "0000008433" "0000000210" "0000010805" "0000000210" "0000010806" "0000000210" "0000014325" "0000000210" "0000014326" "0000028987" "0000052299" "0000028987" "0000052300" "0000028987" "0000052301" "0000028987" "0000052302" "0000028987" "0000052303" "0000028989" "0000052305" "0000028990" "0000052306" "0000028991" "0000052307" "0000028994" "0000052311" "0000028995" "0000052312" "0000028996" "0000052313" "0000028997" "0000052314" "0000028998" "0000052315" "0000102526" "0000165268" "0000155831" "0000356914" "0000155842" "0000356929" "0000155868" "0000356958" "0000155872" "0000357611" "0000155873" "0000357612" "0000173354" "0000393211" "0000173355" "0000393212" "0000208420" "0000438269" "0000208421" "0000438273" "0000208422" "0000438274" "0000208535" "0000438414" "0000208537" "0000438416" "0000208550" "0000438431" "0000208552" "0000438433" "0000208553" "0000438434" "0000208554" "0000438435" "0000208557" "0000438436" "0000208558" "0000438437" "0000208559" "0000438438" "0000296139" "0000652828" "0000306402" "0000670090" "0000316032" "0000698158" "0000326609" "0000710194" "0000429132" "0000908554" "0000449507" "0000959725" "0000449993" "0000971616" "0000450092" "0000972024" "0000465939" "0001029725" "0000468953" "0001049047" "0000470874" "0001058996"