PIGB

phosphatidylinositol glycan anchor biosynthesis class B
OMIM: 604122, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green PIGB in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 1.60

Component of the following Super Panels:

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

    Green PIGB in Mendeliome


    Version 1.2374

    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 1.119

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 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 1.83

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