PIGS

phosphatidylinositol glycan anchor biosynthesis class S
OMIM: 610271, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green PIGS in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 1.44

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Glycosylphosphatidylinositol biosynthesis defect 18 618143

    Green PIGS in Mendeliome


    Version 1.1902

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Glycosylphosphatidylinositol biosynthesis defect 18 618143

    Green PIGS in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Glycosylphosphatidylinositol biosynthesis defect 18 618143

    Green PIGS in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Glycosylphosphatidylinositol biosynthesis defect 18, MIM# 618143

    Green PIGS in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.26

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Developmental and epileptic encephalopathy 95, OMIM # 618143