CHCHD4

coiled-coil-helix-coiled-coil-helix domain containing 4
OMIM: 611077, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red CHCHD4 in Mendeliome


Version 1.4851

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Mitochondrial disease, MONDO:0044970, CHCHD4-related

Red CHCHD4 in Mitochondrial disease


Level 2: Metabolic disorders
Version 1.23

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    • Literature
    Phenotypes
    • Mitochondrial disease, MONDO:0044970, CHCHD4-related