Optic neuropathy
Gene: TIMM8AComment on list classification: Promoted from red to amber. TIMM8A is associated with a phenotype in both OMIM and Gene2Phenotype. Optic atrophy appears to be a minor feature of the condition and based on previous reviews, it was decided that not enough evidence is available to promote this to a green. However, if any new variants that explains the phenotype is available in the future then promotion to green gene status can be considered.Created: 26 Mar 2019, 10:18 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
deafness-dystonia-optic neuropathy syndrome; Mohr-Tranebjaerg syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: OA is an inconsistent and minor element of this condition. Unlikely to present in this category as neurological features predominate (plus other non-OA eye features and deafness).Created: 11 Sep 2016, 9:21 a.m.
Comment on list classification: Unsure whether this should be included on this panel, due to the other major associated phenotypes dystonia and deafness which seem to appear earlier.Created: 7 Sep 2016, 10:18 a.m.
Gene: timm8a has been classified as Amber List (Moderate Evidence).
Publications for gene: TIMM8A were set to 20301395
Source London North GLH was added to TIMM8A.
13.09.2016: 'Inherited optic neuropathies' was removed as a relevant disorder from the Posterior segment abnormalities gene panel (version 1.9) and this panel was approved to live. It has been internally reviewed and revised based on evidence available for each gene, and was promoted to version 1 to be used for analysis.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Publications for TIMM8A were set to 20301395
Mode of inheritance for TIMM8A was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for TIMM8A were set to deafness-dystonia-optic neuropathy syndrome;Mohr-Tranebjaerg syndrome
TIMM8A was added to Inherited optic neuropathies panel. Sources: Emory Genetics Laboratory