PIGB

phosphatidylinositol glycan anchor biosynthesis class B
OMIM: 604122, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green PIGB in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 2.0

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Developmental and epileptic encephalopathy 80 618580

    Green PIGB in Mendeliome


    Version 2.305

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Developmental and epileptic encephalopathy 80, MIM# 618580

    Green PIGB in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.28

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Developmental and epileptic encephalopathy 80, MIM# 618580

    Green PIGB in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.50

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Developmental and epileptic encephalopathy 80, MIM# 618580

    Red PIGB in Hereditary Neuropathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.10

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    Phenotypes
    • Developmental and epileptic encephalopathy 80 MONDO:0032822