PanelApp (staging)
  1. Genes and Genomic Entities
  2. PIGW

PIGW

phosphatidylinositol glycan anchor biosynthesis class W
OMIM: 610275, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green PIGW in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 1.58

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Glycosylphosphatidylinositol biosynthesis defect 11, MIM# 616025
    • intractable seizures
    • West syndrome
    • severe developmental delay
    • dysmorphic facial features
    • hyperphosphatasia
    • epilepsy
    • recurrent respiratory infections
    • hypotonia
    • stereotypies

    Green PIGW in Mendeliome


    Version 1.2302

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Glycosylphosphatidylinositol biosynthesis defect 11, MIM# 616025

    Green PIGW in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.108

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Glycosylphosphatidylinositol biosynthesis defect 11, MIM# 616025

    Green PIGW in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Glycosylphosphatidylinositol biosynthesis defect 11, MIM# 616025