Adult onset movement disorderGene: TIMM8A
PMID: 32820032 (2020) - Animal mouse model with a hemizygous variant (p.I23fs49X) in the Timm8a1 gene, recapitulated features of the deafness-dystonia-optic neuronopathy (DDON) syndrome, associated with this gene. Mutant male mice exhibited hearing impairment, cognitive decline, and some age-dependant alteration in motor coordination and balance. Abnormal mitochondrial morphology was detected in several brain regions of mutant mice using electron microscopy.
Created: 2 Sep 2020, 2:18 p.m. | Last Modified: 2 Sep 2020, 2:18 p.m.
Panel Version: 1.5
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
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