Activity

Filter

Cancel
Date Panel Item Activity
11 actions
Dystonia, chorea or related movement disorder, adult onset v1.105 CHCHD2 Arina Puzriakova Phenotypes for gene: CHCHD2 were changed from 616710; Parkinson disease 22, autosomal dominant to Parkinson disease 22, autosomal dominant, OMIM:616710
Dystonia, chorea or related movement disorder, adult onset v0.90 CHCHD2 Louise Daugherty commented on gene: 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
Dystonia, chorea or related movement disorder, adult onset v0.54 CHCHD2 Louise Daugherty commented on gene: CHCHD2: 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.
Dystonia, chorea or related movement disorder, adult onset v0.53 CHCHD2 James Polke reviewed gene: CHCHD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dystonia, chorea or related movement disorder, adult onset v0.51 CHCHD2 Louise Daugherty Source London North GLH was added to CHCHD2.
Dystonia, chorea or related movement disorder, adult onset v0.50 CHCHD2 Louise Daugherty reviewed gene: CHCHD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dystonia, chorea or related movement disorder, adult onset v0.49 CHCHD2 Emily Jones reviewed gene: CHCHD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 616710, Parkinson disease 22, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia, chorea or related movement disorder, adult onset v0.48 CHCHD2 Louise Daugherty Added phenotypes 616710; Parkinson disease 22, autosomal dominant for gene: CHCHD2
Dystonia, chorea or related movement disorder, adult onset v0.47 CHCHD2 Louise Daugherty Source NHS GMS was added to CHCHD2.
Dystonia, chorea or related movement disorder, adult onset v0.46 CHCHD2 Louise Daugherty Source South West GLH was added to CHCHD2.
Dystonia, chorea or related movement disorder, adult onset v0.2 CHCHD2 Ellen McDonagh 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