PIGS

phosphatidylinositol glycan anchor biosynthesis class S
OMIM: 610271, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green PIGS in Congenital disorders of glycosylation

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 2.92
Latest signed off version: v2.4 (4 Mar 2020)

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 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.161
    Latest signed off version: v3.2 (13 Feb 2020)

    review Not set
    Sources
    • Expert Review Red

    Green PIGS in Inborn errors of metabolism


    Version 2.263
    Latest signed off version: v2.3 (17 Feb 2020)

    Component of the following Super Panels:

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

    Amber PIGS in DDG2P


    Version 2.76
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • DD-Gene2Phenotype
    Phenotypes
    • Neurological Syndrome Fetal Akinesia /Epileptic Encephalopathy

    Amber PIGS in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.558
    Latest signed off version: v2.2 (13 Feb 2020)

    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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1651
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

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