PIGC

phosphatidylinositol glycan anchor biosynthesis class C
OMIM: 601730, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber PIGC in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.194
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Glycosylphosphatidylinositol biosynthesis defect 16
Green PIGC in Early onset or syndromic epilepsy


Level 2: Neurology
Version 8.192
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Glycosylphosphatidylinositol biosynthesis defect 16, OMIM:617816
    Green PIGC in Intellectual disability


    Level 2: Developmental disorders
    Version 9.397
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Literature
    Phenotypes
    • Glycosylphosphatidylinositol biosynthesis defect 16, OMIM:617816