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 8.1
Latest signed off version: v8.0 (6 May 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 10.5
    Latest signed off version: v10.0 (6 May 2026)

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


    Level 2: Metabolic
    Version 9.4
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • 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 7.7
    Latest signed off version: v7.0 (6 May 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 7.1
    Latest signed off version: v7.0 (6 May 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 9.5
    Latest signed off version: v9.0 (6 May 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 10.16
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

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