Adult onset movement disorderGene: CHCHD2
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.
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
616710; Parkinson disease 22, autosomal dominant
Source London North GLH was added to CHCHD2.
Added phenotypes 616710; Parkinson disease 22, autosomal dominant for gene: CHCHD2
Source NHS GMS was added to CHCHD2.
Source South West GLH was added to CHCHD2.
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