Optic neuropathy
Gene: TIMM8AEnsemblGeneIds (GRCh38): ENSG00000126953
EnsemblGeneIds (GRCh37): ENSG00000126953
OMIM: 300356, Gene2Phenotype
TIMM8A is in 16 panels
4 reviews
Ivone Leong (Genomics England Curator)
Comment 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.
Tom Cullup (Great Ormond Street Hospital)
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
Ellen Thomas (Genomics England Curator)
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.
Ellen McDonagh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Amber
- London North GLH
- Emory Genetics Laboratory
- Phenotypes
-
- deafness-dystonia-optic neuropathy syndrome
- Mohr-Tranebjaerg syndrome
- OMIM
- 300356
- Clinvar variants
- Variants in TIMM8A
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Retinal disorders
- Optic neuropathy
- Structural eye disease
- Adult onset neurodegenerative disorder
- Intellectual disability
- Fetal anomalies
- DDG2P
- Likely inborn error of metabolism
- Mitochondrial disorders
- Early onset dystonia
- Adult onset dystonia, chorea or related movement disorder
- Monogenic hearing loss
- Possible mitochondrial disorder - nuclear genes
- Glaucoma (developmental)
History Filter Activity
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: timm8a has been classified as Amber List (Moderate Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: TIMM8A were set to 20301395
Added New Source
Ivone Leong (Genomics England Curator)Source London North GLH was added to TIMM8A.
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)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.
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for TIMM8A were set to 20301395
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for TIMM8A was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for TIMM8A were set to deafness-dystonia-optic neuropathy syndrome;Mohr-Tranebjaerg syndrome
Added New Source
GEL ()TIMM8A was added to Inherited optic neuropathies panel. Sources: Emory Genetics Laboratory