PanelApp
  1. Genes and Genomic Entities
  2. PIGO

PIGO

phosphatidylinositol glycan anchor biosynthesis class O
OMIM: 614730, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green PIGO 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 Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882

    Green PIGO in Mendeliome


    Version 1.3512

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882

    Green PIGO in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.267

    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
    • Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882

    Green PIGO in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882

    Green PIGO in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hyperphosphatasia with mental retardation syndrome 2, 614749 (3)

    Green PIGO in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882

    Green PIGO in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hyperphosphatasia with impaired intellectual development syndrome 2, MIM#614749