PIGU

phosphatidylinositol glycan anchor biosynthesis class U
OMIM: 608528, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber PIGU in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 1.78

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Glycosylphosphatidylinositol biosynthesis defect 21, OMIM #618590

    Amber PIGU in Mendeliome


    Version 1.3490

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Glycosylphosphatidylinositol biosynthesis defect 21
    • OMIM #618590

    Amber PIGU in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.263

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Glycosylphosphatidylinositol biosynthesis defect 21
    • OMIM #618590

    Amber PIGU in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.398

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Glycosylphosphatidylinositol biosynthesis defect 21
    • OMIM #618590