Adult onset dystonia, chorea or related movement disorder
Gene: TIMM8AEnsemblGeneIds (GRCh38): ENSG00000126953
EnsemblGeneIds (GRCh37): ENSG00000126953
OMIM: 300356, Gene2Phenotype
TIMM8A is in 16 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
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
Publications
Louise Daugherty (Genomics England Curator)
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)
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.
Phenotypes
Mohr-Tranebjaerg syndrome, 304700
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- NHS GMS
- South West GLH
- Phenotypes
-
- Mohr-Tranebjaerg syndrome, OMIM:304700
- OMIM
- 300356
- Clinvar variants
- Variants in TIMM8A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Adult onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- DDG2P
- Optic neuropathy
- Adult onset neurodegenerative disorder
- Retinal disorders
- Likely inborn error of metabolism
- Early onset dystonia
- Possible mitochondrial disorder - nuclear genes
- Structural eye disease
- Monogenic hearing loss
- Fetal anomalies
- Glaucoma (developmental)
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: TIMM8A were set to 22736418
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: TIMM8A were changed from Mohr-Tranebjaerg syndrome, 304700; Deafness-Dystonia-Optic Neuronopathy Syndrome to Mohr-Tranebjaerg syndrome, OMIM:304700
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: TIMM8A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: timm8a has been classified as Green List (High Evidence).
Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Added phenotypes Mohr-Tranebjaerg syndrome, 304700 for gene: TIMM8A Publications for gene TIMM8A were changed from to 22736418
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to TIMM8A.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to TIMM8A.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)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