Early onset or syndromic epilepsy
Gene: PIGC
Pons et al. 2020 (PMID: 32707268) report 2 sibs displaying severe psychomotor delay, seizures, organomegaly, cardiopulmonary anomalies, and similar facial dysmorphism. Sequencing revealed a homozygous variant in PIGC gene, c.12_13insTTGTGACTAACA leading to a premature stop codon p.(Gln4_Pro5insLeu*)Created: 27 Apr 2021, 3:20 p.m. | Last Modified: 27 Apr 2021, 3:20 p.m.
Panel Version: 2.328
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycosylphosphatidylinositol biosynthesis defect 16, OMIM:617816
Publications
Two cases have been reported with Glycosylphosphatidylinositol biosynthesis defect-17 who had seizures, PMID: 29573052 (early-onset), 29603516 (febrile).Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycosylphosphatidylinositol biosynthesis defect 16, 617816
Publications
As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is enough evidence to rate this gene Green: PIGx genes act in the same biochemical pathway. Promoted from Amber to Green.Created: 13 Aug 2019, 4:24 p.m. | Last Modified: 15 Aug 2019, 8:07 a.m.
Panel Version: 1.223
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: Alison Callaway and John Taylor. Suggested gene rating: Green.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Comment on list classification: Kept rating as Amber following external review by Zornitza Stark. Not yet associated with a disorder in Gene2Phenotype, and currently only 2 families from one paper identified in the literature (PMID:27694521) for PIGC.Created: 1 Jul 2019, 3:12 p.m. | Last Modified: 1 Jul 2019, 3:12 p.m.
Panel Version: 1.95
PMID:27694521: Edvardson et al. 2017 studied 2 unrelated families (two siblings from consanguineous Moslem-Arab parents, and a son of unrelated Sephardic-Jewish parents) who suffered from global DD, ID and seizures. PIGC variants were found: homozygous p.L189W in one family, and compound het variant (L212P/R21X) in another.Created: 1 Jul 2019, 3:06 p.m. | Last Modified: 1 Jul 2019, 3:10 p.m.
Panel Version: 1.89
Seizures are part of the phenotype of this metabolic disorder; however, only two families reported.Created: 18 Aug 2018, 10:38 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycosylphosphatidylinositol biosynthesis defect 16, MIM#617816
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: PIGC were changed from Glycosylphosphatidylinositol biosynthesis defect 16, 617816 to Glycosylphosphatidylinositol biosynthesis defect 16, OMIM:617816
Publications for gene: PIGC were set to
Gene: pigc has been classified as Green List (High Evidence).
Gene: pigc has been classified as Green List (High Evidence).
Source Wessex and West Midlands GLH was added to PIGC.
Source NHS GMS was added to PIGC.
Gene: pigc has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: PIGC were changed from to Glycosylphosphatidylinositol biosynthesis defect 16, 617816
Mode of inheritance for gene: PIGC was changed from to BIALLELIC, autosomal or pseudoautosomal
Zornitza Stark: Seizures are part of the pheno
Gene: pigc has been classified as Amber List (Moderate Evidence).
Expert Review Amber was added to PIGC. Panel: Genetic Epilepsy Syndromes
PIGC was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
PIGC was created by Sarah Leigh