PanelApp
  1. Genes and Genomic Entities
  2. PIGK

PIGK

phosphatidylinositol glycan anchor biosynthesis class K
OMIM: 605087, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green PIGK in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 2.2

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
    • Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MIM# 618879

    Green PIGK in Mendeliome


    Version 2.577

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MIM# 618879

    Green PIGK in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.42

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MIM# 618879

    Green PIGK in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.145

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MIM# 618879

    Red PIGK in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.157

    Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    Phenotypes
    • neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MONDO:0030037