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

PIGH

phosphatidylinositol glycan anchor biosynthesis class H
OMIM: 600154, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green PIGH 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
    • Expert list
    Phenotypes
    • Glycosylphosphatidylinositol biosynthesis defect 17, MIM# 618010

    Green PIGH in Mendeliome


    Version 1.2302

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Glycosylphosphatidylinositol biosynthesis defect 17, MIM# 618010

    Green PIGH in Microcephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.295

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Glycosylphosphatidylinositol biosynthesis defect 17, MIM# 618010

    Green PIGH 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 17, MIM# 618010

    Green PIGH 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
    • Expert list
    Phenotypes
    • Glycosylphosphatidylinositol biosynthesis defect 17, MIM#618010

    Green PIGH in Fetal anomalies


    Version 1.313

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Glycosylphosphatidylinositol biosynthesis defect 17, MIM# 618010