Deafness_Isolated
Gene: TIMM8A

TIMM8A (translocase of inner mitochondrial membrane 8A)
EnsemblGeneIds (GRCh38): ENSG00000126953
EnsemblGeneIds (GRCh37): ENSG00000126953
OMIM: 300356, Gene2Phenotype
TIMM8A is in 15 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Progressive syndrome that includes deafness, visual disability leading to cortical blindness, dystonia, fractures, and intellectual impairment. 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, 11:52 p.m. | Last Modified: 2 Sep 2020, 11:52 p.m.

Panel Version: 0.383

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Mohr-Tranebjaerg syndrome, MIM# 304700

Publications

Created: 2 Sep 2020, 11:52 p.m.
Last Modified: 2 Sep 2020, 11:52 p.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.383

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Green
Victorian Clinical Genetics Services
Melbourne Genomics Health Alliance Deafness Flagship
Melbourne Genomics Health Alliance Deafness Flagship
Victorian Clinical Genetics Services

Phenotypes

Mohr-Tranebjaerg syndrome, MIM# 304700

OMIM

300356

Clinvar variants

Variants in TIMM8A

Penetrance

None

Publications

Panels with this gene