Full data view for gene PIGL

Information The variants shown are described using the NM_004278.3 transcript reference sequence.

42 entries on 1 page. Showing entries 1 - 42.
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+?/. _1_1 c.-652_150del r.? p.? Unknown - likely pathogenic g.16119889_16120690del g.16216575_16217376del chr7: 16,119,889-16,120,690 - PIGL_000013 - PubMed: Ceroni et al. 2018 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WES CHIME;GPIBD5 - PubMed: Ceroni 2018 - M no Brazil - - - - - 1 Philippe Campeau
+?/. _1_7_ c.0 r.0 p.0 Maternal (confirmed) - likely pathogenic g.(15000000_15680029)_(16757764_17000000)del - hg18 15,620,754–16,698,489del del 17p12-p11.2 PIGL_000014 - PubMed: Ng et al. 2012 - - Germline - - - - - DNA arrayCGH - - CHIME;GPIBD5 22444671-Pat33300 PubMed: Ng 2012, case described in PubMed: Tinschert 1996 Index case with CHIME syndrome who carries one mutation in PIGL and a deletion on chromosome 17. F no Germany - - - - - 1 Philippe Campeau
+?/. - c.38_50del r.(?) p.(Val13AlafsTer12) Paternal (confirmed) - likely pathogenic g.16120578_16120590del g.16217264_16217276del - - PIGL_000008 - PubMed: Fujiwara et al. 2015 - - Germline - - - - - DNA SEQ-NG Blood WES HPMRS1;GPIBD2 - PubMed: Fujiwara 2015 - F no Japan - - - - - 1 Philippe Campeau
?/. - c.48G>A r.(?) p.(Trp16*) Maternal (confirmed) - VUS g.16120588G>A g.16217274G>A - - PIGL_000010 - PubMed: Pagnamenta et al. 2017 - - Germline - - - - - DNA SEQ-NG Blood WES - 277013 PubMed: Pagnamenta 2017 - F no - white - - - - 1 Philippe Campeau
+/. - c.60G>A r.(?) p.(Trp20*) Unknown - pathogenic g.16120600G>A g.16217286G>A - - PIGL_000015 Compound Heterozygous. Two variants in PIGL gene. This is a nonsense (c.60G > A; p.Trp20Ter; W20X) pathogenic variant. It was interpreted as pathogenic as it causes loss of normal protein function through truncation or nonsense-mediated mRNA decay. - - - Germline/De novo (untested) - - - - - DNA SEQ - Commercially available multigene panel for intellectual disability (GeneDx), Sanger sequencing  HPMRS1;GPIBD2 Patient 1 PubMed: Altassan et al., 2018 Individual presented with the main features of HPMRS; developmental delay, cognitive impairment, seizure disorder, skeletal deformities, and high alkaline phosphatase.  M no - - >10y - - Anti-epileptic medications 1 Philippe Campeau
+/. - c.60G>A r.(?) p.(Trp20*) Unknown - pathogenic g.16120600G>A g.16217286G>A - - PIGL_000015 Compound heterozygous. The first variant (c.60G > A; p.Trp20Ter; W20X) is a nonsense variant and was interpreted as pathogenic as it causes loss of normal protein function through truncation or nonsense-mediated mRNA decay. - - - Germline/De novo (untested) - - - - - DNA SEQ - Commercially available multigene panel for intellectual disability (GeneDx), Sanger sequencing  HPMRS1;GPIBD2 Patient 2 PubMed: Altassan et al., 2018 Patient 1's younger brother M no - - >04y - - Anti-epileptic medications. Surgical correction of strabismus. 1 Philippe Campeau
?/. - c.143C>T r.(?) p.(Ala48Val) Unknown - VUS g.16120683C>T g.16217369C>T PIGL(NM_004278.3):c.143C>T (p.A48V) - NCOR1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.258_259del r.(?) p.(Glu86AspfsTer3) Maternal (confirmed) - likely pathogenic g.16137307_16137308del g.16233993_16233994del - - PIGL_000007 - PubMed: Fujiwara et al. 2015 - - Germline - - - - - DNA SEQ-NG Blood WES HPMRS1;GPIBD2 - PubMed: Fujiwara 2015 - F no Japan - - - - - 1 Philippe Campeau
+/. - c.262C>T r.(?) p.(Arg88Cys) Unknown - pathogenic g.16137311C>T g.16233997C>T - - PIGL_000016 Compound heterozygous variants in the PIGL gene. This is a missense (c.262C > T; p.Arg88Cys; R88C) variant. in silico analysis predicted it as likely damaging the protein structure and function. - - - Germline/De novo (untested) - - - - - DNA SEQ - Commercially available multigene panel for intellectual disability (GeneDx), Sanger sequencing  HPMRS1;GPIBD2 Patient 1 PubMed: Altassan et al., 2018 Individual presented with the main features of HPMRS; developmental delay, cognitive impairment, seizure disorder, skeletal deformities, and high alkaline phosphatase.  M no - - >10y - - Anti-epileptic medications 1 Philippe Campeau
+/. - c.262C>T r.(?) p.(Arg88Cys) Unknown - pathogenic g.16137311C>T g.16233997C>T - - PIGL_000016 Compound heterozygous variants in the PIGL gene. This is a missense (c.262C > T; p.Arg88Cys; R88C) variant. in silico analysis predicted it as likely damaging the protein structure and function. - - - Germline/De novo (untested) - - - - - DNA SEQ - Commercially available multigene panel for intellectual disability (GeneDx), Sanger sequencing  HPMRS1;GPIBD2 Patient 1 PubMed: Altassan et al., 2018 Individual presented with the main features of HPMRS; developmental delay, cognitive impairment, seizure disorder, skeletal deformities, and high alkaline phosphatase.  M no - - >10y - - Anti-epileptic medications 1 Philippe Campeau
+/. - c.262C>T r.(?) p.(Arg88Cys) Unknown - pathogenic g.16137311C>T g.16233997C>T - - PIGL_000016 Compound heterozygous. This second variant is a missense (c.262C > T; p.Arg88Cys; R88C) variant. In silico analysis predicted it as likely damaging the protein structure and function. - - - Germline/De novo (untested) - - - - - DNA SEQ - Commercially available multigene panel for intellectual disability (GeneDx), Sanger sequencing  HPMRS1;GPIBD2 Patient 2 PubMed: Altassan et al., 2018 Patient 1's younger brother M no - - >04y - - Anti-epileptic medications. Surgical correction of strabismus. 1 Philippe Campeau
+/. 2 c.274del r.(?) p.(Leu92Phefs*15) Unknown - pathogenic g.16137323del g.16234009del 274delC - PIGL_000001 cell lines derived from these cases had significantly reduced levels of the two GPI anchor markers, CD59 and a GPI-binding toxin, aerolysin (FLAER), confirming the pathogenicity of the mutations. PubMed: Ng et al. 2012 - - Germline yes - - - - DNA SEQ-NG - - CHIME;GPIBD5 22444671-Fam PubMed: Ng 2012 Two siblings with Zunich neuroectodermal syndrome. ? no - - - - - - 2 Philippe Campeau
-?/. - c.336-10T>G r.(=) p.(=) Unknown - likely benign g.16203192T>G - PIGL(NM_004278.3):c.336-10T>G - PIGL_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.336-2A>G r.spl? p.? Paternal (confirmed) - likely pathogenic g.16203200A>G g.16299886A>G - - PIGL_000011 - PubMed: Pagnamenta et al. 2017 - - Germline - - - - - DNA SEQ-NG Blood WES - 277013 PubMed: Pagnamenta 2017 - F no - white - - - - 1 Philippe Campeau
?/. - c.424C>A r.(?) p.(Leu142Met) Parent #1 - VUS g.16203290C>A g.16299976C>A - - PIGL_000018 conflicting interpretations of pathogenicity; 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs115958467 Germline - 4/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
?/. - c.426+6654_660+3131del r.(?) p.(Val143_Lys220del) Unknown - VUS g.16209946_16224353del g.16306632_16321039del - - PIGL_000009 - PubMed: Johnson et al. 2017 - - Unknown - - - - - DNA PCR peripheral blood - CHIME;GPIBD5 - PubMed: Johnson 2017 - M no - - - - - - 1 Philippe Campeau
-?/. - c.427-3del r.spl? p.? Unknown - likely benign g.16216858del g.16313544del PIGL(NM_004278.3):c.427-3del (p.?) - PIGL_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3i c.427-1G>A r.spl? p.? Unknown - pathogenic g.16216860G>A g.16313546G>A - - PIGL_000004 Cell lines derived from this cas had significantly reduced levels of the two GPI anchor markers, CD59 and a GPI-binding toxin, aerolysin (FLAER), confirming the pathogenicity of the mutations. PubMed: Ng et al. 2012 - - Germline yes - - - - DNA SEQ-NG - - CHIME;GPIBD5 - PubMed: Ng 2012 Index case with CHIME syndrome M no - - - - - - 1 Philippe Campeau
+/+ 5 c.500T>C r.(?) p.(Leu167Pro) Unknown - pathogenic g.16220000T>C g.16316686T>C - - PIGL_000002 Heterozygous missense mutation c.500T>C in eight out of nearly 13,000 alleles. In (NHLBI) Exome Sequencing Project, this mutation appears at a frequency of 6:10,752 alleles. (NHLBI) Exome Sequencing Project, the c.500T>C mutation appears at a frequency of 6:10,752 alleles. Cells available from CHIME syndrome cases werr deficient for GPI anchor markers (C59 and FLAER) PubMed: Ng et al. 2012 - rs145303331 Germline yes - - - - DNA SEQ-NG - - CHIME;GPIBD5 22444671-Fam PubMed: Ng 2012 Two siblings with Zunich neuroectodermal syndrome. ? no - - - - - - 2 Philippe Campeau
+/. 5 c.500T>C r.(?) p.(Leu167Pro) Unknown - pathogenic g.16220000T>C g.16316686T>C - - PIGL_000002 This mutation found in the patient is at a highly conserved residue located in the catalytic domain and predicted by both PolyPhen and SIFT to be damaging. Utilizing two large public databases, we found the heterozygous missense mutation c.500T>C in eight out of nearly 13,000 alleles. Cell lines derived from these cases had significantly reduced levels of the two GPI anchor markers, CD59 and a GPI-binding toxin, aerolysin (FLAER), confirming the pathogenicity of the mutations. PubMed: Ng et al. 2012 - rs145303331 Germline yes - - - - DNA SEQ-NG - - CHIME;GPIBD5 - PubMed: Ng 2012 Index case with CHIME syndrome. - - - - - - - - 1 Philippe Campeau
+/. 5 c.500T>C r.(?) p.(Leu167Pro) Unknown - pathogenic g.16220000T>C g.16316686T>C - - PIGL_000002 This mutation alters a conserved residue in the catalytic domain. It is predicted to be damaging by PolyPhen and SIFT. cell lines derived from these cases had significantly reduced levels of the two GPI anchor markers, CD59 and a GPI-binding toxin, aerolysin (FLAER), confirming the pathogenicity of the mutations. PubMed: Ng et al. 2012 - rs145303331 Germline yes - - - - DNA SEQ-NG - - CHIME;GPIBD5 - PubMed: Ng 2012 Index case with CHIME syndrome, one mutation in PIGL found. - - - - - - - - 1 Philippe Campeau
+/+ 5 c.500T>C r.(?) p.(Leu167Pro) Unknown - pathogenic g.16220000T>C g.16316686T>C - - PIGL_000002 This mutation alters a conserved residue in the catalytic domain. This is predicted damagind by PolyPhen and SIFT. Utilizing two large public databases, we found the heterozygous missense mutation c.500T>C in eight out of nearly 13,000 alleles. Cell lines derived from these cases had significantly reduced levels of the two GPI anchor markers, CD59 and a GPI-binding toxin, aerolysin (FLAER), confirming the pathogenicity of the mutations. PubMed: Ng et al 2012 - rs145303331 Germline yes - - - - DNA SEQ-NG - - CHIME;GPIBD5 - PubMed: Ng 2012 Index case with CHIME syndrome M no - - - - - - 1 Philippe Campeau
+/. - c.500T>C r.(?) p.(Leu167Pro) Unknown - pathogenic g.16220000T>C g.16316686T>C PIGL(NM_004278.3):c.500T>C (p.L167P, p.(Leu167Pro)), PIGL(NM_004278.4):c.500T>C (p.L167P) - PIGL_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.500T>C r.(?) p.(Leu167Pro) Unknown - pathogenic g.16220000T>C g.16316686T>C PIGL(NM_004278.3):c.500T>C (p.L167P, p.(Leu167Pro)), PIGL(NM_004278.4):c.500T>C (p.L167P) - PIGL_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.500T>C r.(?) p.(Leu167Pro) Unknown - pathogenic g.16220000T>C g.16316686T>C - - PIGL_000002 Mutation alters a conserved residue in the catalytic domain. Predicted to be damaging by PolyPhen and SIFT. cell lines derived from these cases had significantly reduced levels of the two GPI anchor markers, CD59 and a GPI-binding toxin, aerolysin (FLAER), confirming the pathogenicity of the mutations. PubMed: Ng et al 2012 - rs145303331 Germline - - - - - DNA SEQ-NG - - CHIME;GPIBD5 22444671-Pat33300 PubMed: Ng 2012, case described in PubMed: Tinschert 1996 Index case with CHIME syndrome who carries one mutation in PIGL and a deletion on chromosome 17. F no Germany - - - - - 1 Philippe Campeau
+?/. - c.500T>C r.(?) p.(Leu167Pro) Unknown - likely pathogenic g.16220000T>C g.16316686T>C - - PIGL_000002 - PubMed: Ceroni et al. 2018 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WES CHIME;GPIBD5 - PubMed: Ceroni 2018 - M no Brazil - - - - - 1 Philippe Campeau
+/. - c.500T>C r.(?) p.(Leu167Pro) Unknown - pathogenic g.16220000T>C g.16316686T>C PIGL(NM_004278.3):c.500T>C (p.L167P, p.(Leu167Pro)), PIGL(NM_004278.4):c.500T>C (p.L167P) - PIGL_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.500T>C r.(?) p.(Leu167Pro) Unknown - pathogenic g.16220000T>C g.16316686T>C PIGL(NM_004278.3):c.500T>C (p.L167P, p.(Leu167Pro)), PIGL(NM_004278.4):c.500T>C (p.L167P) - PIGL_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.500T>C r.(?) p.(Leu167Pro) Both (homozygous) - VUS g.16220000T>C g.16316686T>C - - PIGL_000002 conflicting interpretations of pathogenicity; 1 homozygous, no heterozygous ; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs145303331 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.500T>C r.(?) p.(Leu167Pro) Unknown - VUS g.16220000T>C - PIGL(NM_004278.3):c.500T>C (p.L167P, p.(Leu167Pro)), PIGL(NM_004278.4):c.500T>C (p.L167P) - PIGL_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.526+10G>A r.(=) p.(=) Unknown - benign g.16220036G>A g.16316722G>A PIGL(NM_004278.3):c.526+10G>A - PIGL_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.535G>A r.(?) p.(Val179Met) Parent #1 - VUS g.16221097G>A g.16317783G>A - - PIGL_000023 7 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs116591352 Germline - 7/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 7 Mohammed Faruq
?/. - c.535G>A r.(?) p.(Val179Met) Both (homozygous) - VUS g.16221097G>A g.16317783G>A - - PIGL_000023 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs116591352 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. 6 c.652C>T r.(?) p.(Gln218*) Unknown - pathogenic g.16221214C>T g.16317900C>T - - PIGL_000003 cell lines derived from these cases had significantly reduced levels of the two GPI anchor markers, CD59 and a GPI-binding toxin, aerolysin (FLAER), confirming the pathogenicity of the mutations. PubMed: Ng et al. 2012 - rs139004722 Germline yes - - - - DNA SEQ-NG - - CHIME;GPIBD5 - PubMed: Ng 2012 Index case with CHIME syndrome. - - - - - - - - 1 Philippe Campeau
+/. - c.652C>T r.(?) p.(Gln218Ter) Unknown - pathogenic g.16221214C>T g.16317900C>T PIGL(NM_004278.3):c.652C>T (p.Q218*), PIGL(NM_004278.4):c.652C>T (p.(Gln218*)) - PIGL_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.652C>T r.(?) p.(Gln218Ter) Unknown - pathogenic g.16221214C>T - PIGL(NM_004278.3):c.652C>T (p.Q218*), PIGL(NM_004278.4):c.652C>T (p.(Gln218*)) - PIGL_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.680G>A r.(?) p.(Arg227His) Unknown - likely benign g.16229133G>A g.16325819G>A PIGL(NM_004278.3):c.680G>A (p.R227H) - PIGL_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.701G>A r.(?) p.(Arg234His) Paternal (confirmed) - pathogenic g.16229154G>A g.16325840G>A NM_004278.3 c.701G>A p.Arg234His - PIGL_000017 - - - - Germline - - - - - DNA PCRq, SEQ-NG - - NEDHCAS Case 2 PubMed: Mogami et al., 2018 Elder brother of Case 1 M no - - >09y04m - - Antiepileptic medications. Vitamin B6 but not effective. 1 Philippe Campeau
+/. - c.701G>A r.(?) p.(Arg234His) Paternal (confirmed) - pathogenic g.16229154G>A g.16325840G>A NM_004278.3 c.701G>A p.Arg234His - PIGL_000017 - - - - Germline - - - - - DNA PCRq, SEQ-NG - Exome analysis NEDHCAS Case 3 PubMed: Mogami et al., 2018 Eldest brother of Case 1 and 2 M no - - >13y03m - - Antiepileptic medications 1 Philippe Campeau
+/. - c.701G>A r.(?) p.(Arg234His) Paternal (confirmed) - pathogenic g.16229154G>A g.16325840G>A - - PIGL_000017 - - - - Germline - - - - - DNA PCRq, SEQ-NG - Exome analysis NEDHCAS Case 1 PubMed: Mogami et al., 2018 3 siblings with mutations in the PIGL gene. They lacked three symptoms of CHIME syndrome (eye colobomas, heart defects, and ear anomalies). These patients are the first published cases of inherited GPI anchor deficiency with stimulation- induced epileptic myoclonic seizures, confirmed by ictal EEG. F no Japan Japanese >02y02m - - Antiepileptic medications. Vitamin B6 but not effective. 1 Philippe Campeau
-?/. - c.730A>C r.(?) p.(Met244Leu) Unknown - likely benign g.16229183A>C - PIGL(NM_004278.3):c.730A>C (p.(Met244Leu)) - PIGL_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*20A>G r.(=) p.(=) Unknown - benign g.16229232A>G g.16325918A>G - - PIGL_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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