Genes in panel

Adult onset movement disorder

Gene: CHCHD2

Amber List (moderate evidence)

CHCHD2 (coiled-coil-helix-coiled-coil-helix domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000106153
EnsemblGeneIds (GRCh37): ENSG00000106153
OMIM: 616244, Gene2Phenotype
CHCHD2 is in 3 panels

3 reviews

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Created: 5 Aug 2019, 2:45 p.m. | Last Modified: 5 Aug 2019, 2:45 p.m.
Panel Version: 0.90
Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 1:19 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 12:18 p.m.

Emily Jones (North Bristol NHS Trust)

I don't know

See comments on Parkinson disease and complex parkinsonism panel
Created: 23 Apr 2019, 12:14 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
616710; Parkinson disease 22, autosomal dominant

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • South West GLH
  • Expert Review Amber
Phenotypes
  • 616710
  • Parkinson disease 22, autosomal dominant
OMIM
616244
Clinvar variants
Variants in CHCHD2
Penetrance
None
Publications
  • Funayama, M., Ohe, K., Amo, T., Furuya, N., Yamaguchi, J., Saiki, S., Li, Y., Ogaki, K., Ando, M., Yoshino, H., Tomiyama, H., Nishioka, K., and 12 others. CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study. Lancet Neurol. 14: 274-282, 2015
  • 26067110
  • 26067114
  • 25662902
Panels with this gene

History Filter Activity

23 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to CHCHD2.

23 Apr 2019, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes 616710; Parkinson disease 22, autosomal dominant for gene: CHCHD2

23 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CHCHD2.

23 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to CHCHD2.

3 Jan 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: CHCHD2 was added gene: CHCHD2 was added to Adult onset movement disorder. Sources: Expert Review Amber Mode of inheritance for gene: CHCHD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHCHD2 were set to Funayama, M., Ohe, K., Amo, T., Furuya, N., Yamaguchi, J., Saiki, S., Li, Y., Ogaki, K., Ando, M., Yoshino, H., Tomiyama, H., Nishioka, K., and 12 others. CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study. Lancet Neurol. 14: 274-282, 2015; 26067110; 26067114; 25662902 Phenotypes for gene: CHCHD2 were set to 616710; Parkinson disease 22, autosomal dominant