Possible mitochondrial disorder - nuclear genes

Gene: TIMM8A

PMID: 32820032 (2020) - Animal mouse model with a hemizygous variant (p.I23fs49X) in Timm8a1, recapitulated features of 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, 2:09 p.m. | Last Modified: 2 Sep 2020, 2:09 p.m.

Panel Version: 1.16

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

Publications

• 32820032

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.

Created: 4 Feb 2019, 1:36 p.m.

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

Phenotypes
Mohr-Tranebjaerg syndrome, 304700

Green List (high evidence)

Comment on mode of inheritance: Hemizygous indicated for both disorders in G2P. XLR indicated for Mohr-Tranebjaerg syndrome, and XL for Jensen syndrome.

Created: 2 Mar 2016, 2:11 p.m.

Comment on list classification: Promoted from red to green due to expert review, and it is a "Both DD and IF" gene on G2P for both MOHR-TRANEBJAERG SYNDROME and JENSEN SYNDROME.

Created: 2 Mar 2016, 2:09 p.m.

This gene was submitted as "DDP" in the expert list, which is likely to correspond to this HGNC-approved symbol.

Created: 1 Jul 2015, 10:43 a.m.