PIGS

phosphatidylinositol glycan anchor biosynthesis class S
OMIM: 610271, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green PIGS in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 1.1

Component of the following Super Panels:

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

    Green PIGS in Congenital Disorders of Glycosylation


    Level 2: Metabolic disorders
    Version 1.80

    Component of the following Super Panels:

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

    Green PIGS in Mendeliome


    Version 1.3795

    1 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 1.307

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 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 1.497

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

    Green PIGS in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.158

    Component of the following Super Panels:

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