Full data view for gene PIGA

Information The variants shown are described using the NM_002641.3 transcript reference sequence.

93 entries on 1 page. Showing entries 1 - 93.
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AscendingDNA change (cDNA)     

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DNA change (genomic) (hg19)     

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Reference     

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ID_report     

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Owner     
-?/. - c.-75A>G r.(?) p.(=) Unknown - likely benign g.15353635T>C - PIGA(NM_002641.3):c.-75A>G (p.(=)) - PIGA_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-63+140C>G - p.(=) Maternal (inferred) - - g.15353483G>C g.15335361G>C - - PIGA_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-63+140C>G - p.(=) Maternal (inferred) - - g.15353483G>C g.15335361G>C - - PIGA_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
./. 2 c.16G>T r.(?) p.(Gly6*) Unknown - - g.15350037C>A g.15331915C>A - - PIGA_000032 Variant found in 14% of clones. This mutation was found in patient's bone marrow before the treatment. PubMed: Nafa et al. 1998 - - Somatic yes - - 0 - DNA SSCA - - PNH-1 - PubMed: Nafa et al 1998 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 - - 1 Philippe Campeau
-/. - c.55C>T r.(?) p.(Arg19Trp) Unknown - benign g.15349998G>A - PIGA(NM_002641.3):c.55C>T (p.R19W) - PIGA_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.55C>T r.(?) p.(Arg19Trp) Parent #1 - - g.15349998G>A g.15331876G>A - - PIGA_000046 66 heterozygous; Clinindb (India) Faruq 2020, submtted - - Germline - 66/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 66 Mohammed Faruq
-/. - c.55C>T r.(?) p.(Arg19Trp) Unknown - benign g.15349998G>A g.15331876G>A - - PIGA_000046 44 homozygous; Clinindb (India) Faruq 2020, submtted - - Germline - 44/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, subitted analysis 2794 individuals (India) - - India - - 0 - - 44 Mohammed Faruq
?/. - c.56G>A r.(?) p.(Arg19Gln) Unknown - VUS g.15349997C>T - PIGA(NM_002641.3):c.56G>A (p.R19Q) - PIGA_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.61A>G r.(?) p.(Ser21Gly) Unknown - VUS g.15349992T>C - PIGA(NM_002641.3):c.61A>G (p.S21G, p.(Ser21Gly)) - PIGA_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.61A>G r.(?) p.(Ser21Gly) Unknown - VUS g.15349992T>C - PIGA(NM_002641.3):c.61A>G (p.S21G, p.(Ser21Gly)) - PIGA_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.64C>T r.(?) p.(Pro22Ser) Unknown - likely benign g.15349989G>A - PIGA(NM_002641.3):c.64C>T (p.P22S) - PIGA_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.76dup r.(?) p.(Tyr26Leufs*4) Maternal (confirmed) - - g.15349977dup g.15331855dup - - PIGA_000002 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. PubMed: Belet et al 2014 - rs587777397 Germline yes - - 0 - DNA SEQ-NG - - MCAHS-2;GPIBD-4 - PubMed: Claes et al 1997, PubMed: Belet et al 2014 Four-generation family with three female carriers and five affected males with multiple congenital anomalies-hypotonia-seizures syndrome 2. - - Belgium - - 0 - - 1 Philippe Campeau
./. - c.76dup r.(?) p.(Tyr26Leufs*4) Maternal (confirmed) - - g.15349977dup - 76dupT - PIGA_000002 - PubMed: Claes 1997 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - MCAHS-2;GPIBD-4 09307258-Pat PubMed: Claes 1997 - M no Belgium Caucasian - 0 - - 1 Guy Froyen
+?/. 2 c.98A>G r.(?) p.(His33Arg) Maternal (confirmed) - likely pathogenic g.15349955T>C g.15331833T>C - - PIGA_000040 - - - - Germline yes - - 0 - DNA SEQ-NG-I blood - ID P7 - - M no China - >06y - - - 1 Wenjuan Qiu
?/. - c.98A>G r.(?) p.(His33Arg) Unknown - VUS g.15349955T>C - - - PIGA_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.110T>C r.(?) p.(Met37Thr) Unknown - - g.15349943A>G - - - PIGA_000057 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 - DNA SEQ, SEQ-NG Peripheral blood WES EEOC Elder twin PubMed: Xie et al., 2018 Monozygotic twins M no China Chinese >00y14m 0 - Antiepileptic medications, ketogenic diet therapy 1 Philippe Campeau
+/. 2 c.110T>C r.(?) p.(Met37Thr) Unknown - - g.15349943A>G - - - PIGA_000057 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 - DNA SEQ, SEQ-NG - WES EEOC YoungerTwin PubMed: Xie et al., 2018 Monozygotic twins M no China Chinese >00y14m 0 - Antiepileptic medications, ketogenic diet therapy 1 Philippe Campeau
?/. - c.145G>A r.(?) p.(Val49Met) Unknown - VUS g.15349908C>T - - - PIGA_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? - c.145G>A r.(?) p.(Val49Met) Unknown - - g.15349908C>T - - - PIGA_000049 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.182T>C r.(?) p.(Ile61Thr) Unknown - likely pathogenic g.15349871A>G - - - PIGA_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. 2 c.211A>G r.(?) p.(Thr71Ala) Unknown - - g.15349842T>C g.15331720T>C - - PIGA_000030 Mutation found in 13 over 36 clones. This mutation was present in the patient's bone marrow before the treatment. PubMed: Nafa et al 1998 - - Somatic yes - - 0 - DNA SSCA - - PNH-1 - PubMed: Nafa et al 1998 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 - - 1 Philippe Campeau
+?/+? - c.229C>G r.(?) p.(Arg77Gly) Unknown - - g.15349824G>C - - - PIGA_000061 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.230G>A r.(?) p.(Arg77Gln) Unknown - VUS g.15349823C>T - PIGA(NM_002641.3):c.230G>A (p.R77Q) - PIGA_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. 2 c.230G>T r.(?) p.(Arg77Leu) Unknown - - g.15349823C>A g.15331701C>A - - PIGA_000035 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. PubMed: Kato et al 2014 - rs587777398 Germline yes - - 0 - DNA SEQ-NG - - MCAHS-2;GPIBD-4 - PubMed: Kato et al 2014 Two brothers with early infantile epileptic encephalopathy. M - Japan - - 0 - - 1 Philippe Campeau
+?/+? - c.236G>T r.(?) p.(Gly79Val) Unknown - - g.15349817C>A - - - PIGA_000062 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? - c.242G>A r.(?) p.(Arg81His) Unknown - - g.15349811C>T - - - PIGA_000063 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.248T>C r.(?) p.(Leu83Pro) Unknown - VUS g.15349805A>G - PIGA(NM_002641.3):c.248T>C (p.L83P) - PIGA_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. 2 c.251C>T r.(?) p.(Thr84Ile) Unknown - - g.15349802G>A g.15331680G>A - - PIGA_000031 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. PubMed: Nafa et al. 1998 - - Somatic yes - - 0 - DNA SSCA - - PNH-1 - PubMed: Nafa et al 1998 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 - - 1 Philippe Campeau
+/. - c.278C>T r.(?) p.(Pro93Leu) Unknown - - g.15349775G>A g.15331653G>A - - PIGA_000039 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. PubMed: van der Crabben et al 2014 - rs587777400 Germline yes - - 0 - DNA SEQ-NG - - MCAHS-2;GPIBD-4 - PubMed: van der Crabben et al 2014 Three generation family with one male affected and two female carriers. M - - Caucasian - 0 - - 1 Philippe Campeau
+/. - c.278C>T r.(?) p.(Pro93Leu) Unknown - pathogenic g.15349775G>A - PIGA(NM_002641.3):c.278C>T (p.P93L) - PIGA_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.290T>A r.(?) p.(Met97Lys) Maternal (confirmed) - - g.15349763A>T - c.290T>A p.(Met97Lys) (hem) [NM_002641.3] - PIGA_000060 Hemizygous mutation - - - Germline - - - 0 - DNA SEQ-NG-I - WGS Illumina MCAHS-2;GPIBD-4 28771251-Pat27 PubMed: Lionel et al., 2018 Variant found in a patient with a clinical phenotype suggestive of an underlying genetic disorder using WGS M ? Canada - - 0 - - 1 Philippe Campeau
+/. - c.293A>C r.(?) p.(Tyr98Ser) Unknown - - g.15349760T>G - PIGA (NM_002641.3) c.293A > C p. (Tyr98Ser) - PIGA_000058 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 - DNA SEQ-NG - Trio-based exam sequencing EIEE Decipher ID 271747 PubMed: Low et al., 2018 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) 1 Philippe Campeau
?/. - c.313A>C r.(?) p.(Thr105Pro) Unknown - VUS g.15349740T>G - - - PIGA_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.355C>T r.(?) p.(Arg119Trp) Unknown - - g.15349698G>A g.15331576G>A - - PIGA_000037 Variant at a highly conserved residue. It was absent in was not found in the Exome Variant Server database or in 573 control exomes. PubMed: Kato et al 2014 - rs587777396 Unknown yes - - 0 - DNA SEQ-NG - - MCAHS-2;GPIBD-4 - PubMed: Kato et al 2014 15-month-old boy with MCAHS2 M - Japan - - 0 - - 1 Philippe Campeau
+/. - c.356G>A r.(?) p.(Arg119Gln) Unknown - - g.15349697C>T - - - PIGA_000056 Patient's mother and aunt are carriers of the variant - - - Germline - - - 0 - DNA SEQ, SEQ-NG-I Peripheral blood WES IE ZY07 PubMed: Lin et al., 2018 First family with PIGA-associated epileptic encephalopathy in Taiwan. Proband is third child of a pair of nonconsanguineous healthy parents. M no Taiwan Taiwanese >00y03m 0 - Anti-epileptic drugs, levodopa 1 Philippe Campeau
+?/+? - c.404C>T r.(?) p.(Ala135Val) Unknown - - g.15349649G>A - - - PIGA_000064 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.424G>A r.(?) p.(Ala142Thr) Both (homozygous) - likely pathogenic g.15349629C>T - - - PIGA_000053 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - M - (Germany) - - 0 - - 1 IMGAG
+?/. - c.427A>G r.(?) p.(Lys143Glu) Maternal (confirmed) - - g.15349626T>C - - - PIGA_000050 - PubMed: Kim et al. 2016 - - Germline - - - 0 - DNA SEQ-NG - WES EEOC - PubMed: Kim 2016 - M no - - - 0 - - 1 Philippe Campeau
+?/+? - c.481G>A r.(?) p.(Asp161Asn) Unknown - - g.15349572C>T - - - PIGA_000065 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.492G>A r.(?) p.(=) Unknown - likely benign g.15349561C>T - PIGA(NM_002641.3):c.492G>A (p.S164=) - PIGA_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.535A>T r.(?) p.(Asn179Tyr) Maternal (confirmed) - - g.15349518T>A - - - PIGA_000052 - PubMed: Joshi et al. 2016 - - Germline yes - - 0 - DNA SEQ-NG - WES EEOC IIHG-112-1 PubMed: Joshi 2016 - M no - - - 0 - - 2 Philippe Campeau
+?/. - c.535A>T r.(?) p.(Asn179Tyr) Maternal (confirmed) - - g.15349518T>A - - - PIGA_000052 - PubMed: Joshi et al. 2016 - - Germline yes - - 0 - DNA SEQ - - EEOC IIHG-112-5 PubMed: Joshi 2016 - M no - - - 0 - - 1 Philippe Campeau
+?/+? - c.565A>G r.(?) p.(Lys189Glu) Unknown - - g.15349488T>C - - - PIGA_000066 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.613G>A r.(?) p.(Val205Ile) Parent #1 - - g.15349440C>T - - - PIGA_000054 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
+/. 2 c.616A>T r.(?) p.(Ile206Phe) Unknown - - g.15349437T>A g.15331315T>A - - PIGA_000036 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. PubMed: Kato et al 2014 - rs201119959 Unknown yes - - 0 - DNA SEQ-NG - - MCAHS-2;GPIBD-4 - PubMed: Kato et al 2014 Boy with MCAHS2. M - Japan - - 0 - - 1 Philippe Campeau
?/. - c.665G>A r.(?) p.(Arg222Lys) Unknown - VUS g.15349388C>T - PIGA(NM_002641.3):c.665G>A (p.R222K, p.(Arg222Lys)) - PIGA_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.665G>A r.(?) p.(Arg222Lys) Unknown - VUS g.15349388C>T - PIGA(NM_002641.3):c.665G>A (p.R222K, p.(Arg222Lys)) - PIGA_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.715+168C>A - p.(=) Maternal (inferred) - - g.15349170G>T g.15331048G>T - - PIGA_000014 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.716-10A>G r.(=) p.(=) Unknown - likely benign g.15344178T>C - PIGA(NM_002641.3):c.716-10A>G - PIGA_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.849-130_849-129insTT - p.(=) Maternal (inferred) - - g.15343403_15343404insAA g.15325281_15325282insAA - - PIGA_000012 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.849-130_849-129insTT - p.(=) Maternal (inferred) - - g.15343403_15343404insAA g.15325281_15325282insAA - - PIGA_000012 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.849-129_849-128dup r.(=) p.(=) Unknown - likely benign g.15343402_15343403dup - PIGA(NM_002641.3):c.849-129_849-128dupTT - PIGA_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.849-128_849-127insTT - p.(=) Maternal (inferred) - - g.15343401_15343402insAA g.15325279_15325280insAA - - PIGA_000017 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.849-128_849-127insTT - p.(=) Maternal (inferred) - - g.15343401_15343402insAA g.15325279_15325280insAA - - PIGA_000017 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.849-71G>A r.(=) p.(=) Unknown - likely benign g.15343345C>T - PIGA(NM_002641.3):c.849-71G>A - PIGA_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.849-5A>G r.spl? p.(Arg283Serfs*15) Unknown - - g.15343279T>C - - - PIGA_000055 Nonsense mutation - - - Germline - - - 0 - DNA SEQ-NG Peripheral blood - MCAHS-2;GPIBD-4 IV:4 PubMed: Yang et al., 2018 WES performed on two trios (the proband's family and his affected maternal cousin's family) from a nonconsanguineous Chinese 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 Chinese 00y02m 0 - - 1 Philippe Campeau
+/. - c.849-5A>G r.spl? p.(Arg283Serfs*15) Unknown - - g.15343279T>C - - - PIGA_000055 Nonsense mutation. The 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 - DNA SEQ-NG Peripheral blood - MCAHS-2;GPIBD-4 IV:2 PubMed: Yang et al., 2018 Maternal cousin of individual IV:4 from the same paper. M no China Chinese - 0 - - 1 Philippe Campeau
+/. - c.849-5A>G r.spl? p.(Arg283Serfs*15) Unknown - - g.15343279T>C - - - PIGA_000055 Nonsense mutation. The 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 - DNA SEQ, SEQ-NG Peripheral blood WES MCAHS-2;GPIBD-4 III:5 PubMed: Yang et al., 2018 Uncle of individual IV:2 (brother of IV:2's mother). M no China Chinese 01y 0 - - 1 Philippe Campeau
-?/. - c.933T>C r.(?) p.(=) Unknown - likely benign g.15343190A>G - PIGA(NM_002641.3):c.933T>C (p.T311=) - PIGA_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.954C>T r.(?) p.(=) Unknown - likely benign g.15343169G>A - PIGA(NM_002641.3):c.954C>T (p.I318=) - PIGA_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.971G>T r.(?) p.(Cys324Phe) Unknown - pathogenic g.15343152C>A - - - PIGA_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? - c.971G>T r.(?) p.(Cys324Phe) Unknown - - g.15343152C>A - - - PIGA_000048 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.981+8G>A r.(=) p.(=) Unknown - likely benign g.15343134C>T - PIGA(NM_002641.3):c.981+8G>A - PIGA_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.989G>A r.(?) p.(Ser330Asn) Maternal (confirmed) - - g.15342986C>T - - - PIGA_000051 - PubMed: Tarailo-Graovac et al. 2015 - - Germline yes - - 0 - DNA SEQ-NG peripheral blood WES MGORS-3 - PubMed: Tarailo-Graovac 2015 - M no - Chinese - 0 - - 1 Philippe Campeau
+/. 4 c.1030_1032delCTT r.(?) p.(Leu344del) Unknown - - g.15342943_15342945delAAG g.15324821_15324823delAAG - - PIGA_000038 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. PubMed: Swoboda et al 2014 - rs587777399 Germline yes - - 0 - DNA SEQ-NG - - MCAHS-2;GPIBD-4 - PubMed: Swoboda et al 2014 Four generation family with three affected males and three female carriers. M - - - - 0 - - 1 Philippe Campeau
+/. - c.1064T>C r.(?) p.(Leu355Ser) Unknown - - g.15342911A>G - - - PIGA_000059 Heterozygous mutation. - - - De novo - - - 0 - DNA SEQ-NG-I - Targeted sequencing on an Illumina MiSeq platform and targeted, exon-level microarray copy number analysis. EIEE Patient_32 PubMed: Trump et al., 2016 Mutation found in a gene panel M - - - - 0 - - 1 Philippe Campeau
?/. - c.1202T>G r.(?) p.(Val401Gly) Unknown - VUS g.15339881A>C - - - PIGA_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.1234C>T r.(?) p.(Arg412*) Maternal (confirmed) - - g.15339849G>A g.15321727G>A - - PIGA_000033 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. PubMed: Johnston et al 2012 - rs387906726 Germline yes - - 0 - DNA SEQ-NG - - MCAHS-2;GPIBD-4 - PubMed: Johnston et al 2012 Four generation family with two female carriers and three affected males with multiple congenital anomalies-hypotonia-seizures syndrome-2. - - - - - 0 - - 1 Philippe Campeau
+/. 6 c.1234C>T r.(?) p.(Arg412*) Unknown - - g.15339849G>A g.15321727G>A - - PIGA_000033 Expression of GPI-anchored proteins in PIGA-deficient JY5 cells was only partially restored after transfection. PubMed: Kato et al 2014 - rs387906726 Unknown yes - - 0 - DNA SEQ-NG - - MCAHS-2;GPIBD-4 - PubMed: Kato et al 2014 6-old-year patient. M - Japan - - 0 - - 1 Philippe Campeau
+/. - c.1234C>T r.(?) p.(Arg412*) Maternal (confirmed) - - g.15339849G>A - - - PIGA_000033 Hemizygous - - - Germline - - - 0 - DNA SEQ, SEQ-NG Peripheral blood WES SGBS P1 PubMed: Fauth et al., 2016 - M no Bosnia and Herzegovina;Switzerland European 00y00m15d 0 - Anti-epileptic medications 1 Philippe Campeau
+/. - c.1234C>T r.(?) p.(Arg412*) Maternal (confirmed) - - g.15339849G>A - - - PIGA_000033 Hemizygous mutation. - - - Germline - - - 0 - DNA SEQ, SEQ-NG Peripheral blood - SGBS-2 P2 PubMed: Fauth et al., 2016 - M no Austria;Dominican Republic - 00y03m 0 - - 1 Philippe Campeau
+/. 6 c.1234C>T r.(?) p.(Arg412*) Maternal (confirmed) - - g.15339849G>A - - - PIGA_000033 Hemizygous mutation - - - Germline - - - 0 - DNA SEQ, SEQ-NG paraffin‐embedded liver tissue WES SGBS-2 P3 PubMed: Fauth et al., 2016 older brother of patient 2. Stillborn at 32+2w. M no Austria;Dominican Republic - - 0 - - 1 Philippe Campeau
-?/. - c.1261G>A r.(?) p.(Gly421Ser) Unknown - likely benign g.15339822C>T - - - PIGA_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. 6 c.1324_1355dup r.(?) p.(Val453*) Unknown - - g.15339728_15339759dup g.15321606_15321637dup - - PIGA_000029 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. PubMed: Nafa et al. 1998 - - Somatic yes - - 0 - DNA SSCA - - PNH-1 - PubMed: Nafa et al 1998 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 - - 1 Philippe Campeau
?/. - c.1330T>G r.(?) p.(Trp444Gly) Unknown - VUS g.15339753A>C - PIGA(NM_002641.3):c.1330T>G (p.W444G) - PIGA_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? - c.1352T>C r.(?) p.(Ile451Thr) Unknown - - g.15339731A>G - - - PIGA_000067 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? - c.1354G>T r.(?) p.(Asp452Tyr) Unknown - - g.15339729C>A - - - PIGA_000068 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - 0 - - - - - - - - - - - - - - - - - - -
./. 6 c.1355_1356insAA r.(?) p.(Asp452Glufs*5) Unknown - - g.15339727_15339728insTT g.15321605_15321606insTT - - PIGA_000028 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. PubMed: Nafa et al 1998 - - Somatic yes - - 0 - DNA SSCA - - PNH-1 - PubMed: Nafa et al 1998 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 - - 1 Philippe Campeau
-?/. - c.1420G>A r.(?) p.(Gly474Arg) Unknown - likely benign g.15339663C>T - PIGA(NM_002641.3):c.1420G>A (p.G474R) - PIGA_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1421G>T r.(?) p.(Gly474Val) Unknown - likely benign g.15339662C>A - PIGA(NM_002641.3):c.1421G>T (p.G474V) - PIGA_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1421G>T r.(?) p.(Gly474Val) Unknown - likely benign g.15339662C>A - PIGA(NM_002641.3):c.1421G>T (p.G474V) - PIGA_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1626T>C - p.(=) Maternal (inferred) - - g.15338002A>G g.15319880A>G - - PIGA_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*1626T>C - p.(=) Maternal (inferred) - - g.15338002A>G g.15319880A>G - - PIGA_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*1746T>A - p.(=) Maternal (inferred) - - g.15337882A>T g.15319760A>T - - PIGA_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*1746T>A - p.(=) Maternal (inferred) - - g.15337882A>T g.15319760A>T - - PIGA_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*1771dup - p.(=) Maternal (inferred) - - g.15337857dup g.15319735dup - - PIGA_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*1771dup - p.(=) Maternal (inferred) - - g.15337857dup g.15319735dup - - PIGA_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*1778_*1779insT - p.(=) Maternal (inferred) - - g.15337849_15337850insA g.15319727_15319728insA - - PIGA_000018 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*1778_*1779insT - p.(=) Maternal (inferred) - - g.15337849_15337850insA g.15319727_15319728insA - - PIGA_000018 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*2014A>G - p.(=) Maternal (inferred) - - g.15337614T>C g.15319492T>C - - PIGA_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*2014A>G - p.(=) Maternal (inferred) - - g.15337614T>C g.15319492T>C - - PIGA_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*5985A>G r.(=) p.(=) Unknown - VUS g.15333643T>C - ASB11(NM_080873.2):c.85A>G (p.K29E) - ASB11_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6082G>A r.(=) p.(=) Unknown - likely benign g.15333546C>T - ASB11(NM_080873.2):c.181+1G>A - ASB11_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend