PanelApp
  1. Genes and Genomic Entities
  2. PIGU

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 1.67

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Glycosylphosphatidylinositol biosynthesis defect 21, OMIM #618590

    Amber PIGU in Mendeliome


    Version 1.2791

    		review 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 1.170

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  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 1.205

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