Adult onset movement disorderGene: TIMM8A
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.
Deafness-dystonia syndrome. Deafness precedes the dystonia. Dystonia can occur from first to sixth decades, but peak in 2nd and 3rd decades.
Created: 23 Apr 2019, 12:14 p.m.
Mohr-Tranebjaerg syndrome, 304700
Mode of inheritance for gene: TIMM8A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Gene: timm8a has been classified as Green List (High Evidence).
Added phenotypes Mohr-Tranebjaerg syndrome, 304700 for gene: TIMM8A Publications for gene TIMM8A were changed from to 22736418
Source NHS GMS was added to TIMM8A.
Source South West GLH was added to TIMM8A.
gene: TIMM8A was added gene: TIMM8A was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: TIMM8A was set to Phenotypes for gene: TIMM8A were set to Deafness-Dystonia-Optic Neuronopathy Syndrome