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 1.121

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


Version 4.47
Latest signed off version: v4.34 (31 Jul 2023)

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


Version 3.18
Latest signed off version: v3.12 (31 Jul 2023)

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