PIGG

phosphatidylinositol glycan anchor biosynthesis class G
OMIM: 616918, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber PIGG in Fetal anomalies


Version 1.749
Latest signed off version: v1.92 (21 Aug 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Intellectual Disability with Seizures and Hypotonia

Amber PIGG in DDG2P


Version 2.50
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • Intellectual Disability with Seizures and Hypotonia

    Green PIGG in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.452
    Latest signed off version: v2.2 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • Mental retardation, autosomal recessive 53 616917

    Green PIGG in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1395
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Expert Review
    • Literature
    Phenotypes
    • MRT53
    • Mental retardation, autosomal recessive 53, 616917
    • # 616917 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53

    Green PIGG in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mental retardation, autosomal recessive 53, 616917