KGD4

alpha-ketoglutarate dehydrogenase subunit 4
OMIM: 611996, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber KGD4 in Mendeliome


Version 2.10

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Leigh syndrome - MONDO:0009723, MRPS36/KGD4-related
Tags
  • new gene name

Amber KGD4 in Mitochondrial disease


Level 2: Metabolic disorders
Version 2.0

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Leigh syndrome - MONDO:0009723, MRPS36/KGD4-related
    Tags
    • new gene name

    Amber KGD4 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.1

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Leigh syndrome - MONDO:0009723, MRPS36/KGD4-related

    Amber KGD4 in Dystonia and Chorea


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Leigh syndrome - MONDO:0009723, MRPS36/KGD4-related
    Tags
    • new gene name

    Amber KGD4 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 1.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Leigh syndrome - MONDO:0009723, MRPS36/KGD4-related