PIGS

phosphatidylinositol glycan anchor biosynthesis class S
OMIM: 610271, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green PIGS in Congenital disorders of glycosylation


Level 2: Metabolic
Version 8.8
Latest signed off version: v8.7 (12 Aug 2026)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies, childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Glycosylphosphatidylinositol biosynthesis defect 18 618143
    Red PIGS in Arthrogryposis


    Level 2: Neurology
    Version 10.23
    Latest signed off version: v10.16 (12 Aug 2026)

    review Not set
    Sources
    • Expert Review Red
    Green PIGS in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 9.30
    Latest signed off version: v9.29 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Glycosylphosphatidylinositol biosynthesis defect 18 618143
    Green PIGS in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.5
    Latest signed off version: v8.0 (12 Aug 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    • Expert Review
    Phenotypes
    • Developmental and epileptic encephalopathy 95, OMIM:618143
    Green PIGS in DDG2P


    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Neurological Syndrome Fetal Akinesia /Epileptic Encephalopathy
    Amber PIGS in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.74
    Latest signed off version: v9.56 (12 Aug 2026)

    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 Amber
    • Expert list
    Phenotypes
    • Glycosylphosphatidylinositol biosynthesis defect 18 618143
    Tags
    • watchlist
    Green PIGS in Intellectual disability


    Level 2: Developmental disorders
    Version 11.28
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Glycosylphosphatidylinositol biosynthesis defect 18 618143