1. Genes and Genomic Entities
  2. CHCHD2

CHCHD2

coiled-coil-helix-coiled-coil-helix domain containing 2
OMIM: 616244, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber CHCHD2 in Parkinson Disease and Complex Parkinsonism

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.128

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Parkinson disease 22, autosomal dominant
  • 616710
Green CHCHD2 in Adult onset neurodegenerative disorder


Level 2: Neurology
Version 9.1
Latest signed off version: v9.0 (6 May 2026)

Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • London North GLH
    • NHS GMS
    • South West GLH
    Phenotypes
    • Parkinson disease 22, autosomal dominant, OMIM:616710
    Amber CHCHD2 in Adult onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 6.1
    Latest signed off version: v6.0 (6 May 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • London North GLH
    • NHS GMS
    • South West GLH
    • Expert Review Amber
    Phenotypes
    • Parkinson disease 22, autosomal dominant, OMIM:616710