Retinal disorders
Gene: TIMM8AEnsemblGeneIds (GRCh38): ENSG00000126953
EnsemblGeneIds (GRCh37): ENSG00000126953
OMIM: 300356, Gene2Phenotype
TIMM8A is in 16 panels
2 reviews
Catherine Snow (Genomics England)
TIMM8A rated as Green as has a relevant phenotype to be included on the panel following discussion in Genomics England Clinical Team Meeting, 7th October 2019.Created: 7 Oct 2019, 4:18 p.m. | Last Modified: 7 Oct 2019, 4:18 p.m.
Panel Version: 1.184
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mohr-Tranebjaerg syndrome, 304700
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
syndromic deafness plus eye phenotypeCreated: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Eye Disorders
- Mohr-Tranebjaerg syndrome, 304700
- OMIM
- 300356
- Clinvar variants
- Variants in TIMM8A
- Penetrance
- Complete
- 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
Set Phenotypes
Catherine Snow (Genomics England)Phenotypes for gene: TIMM8A were changed from Eye Disorders to Eye Disorders; Mohr-Tranebjaerg syndrome, 304700
Set mode of inheritance
Catherine Snow (Genomics England)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
Catherine Snow (Genomics England)Gene: timm8a has been classified as Green List (High Evidence).
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to TIMM8A.
Added New Source
Ellen McDonagh (Genomics England Curator)TIMM8A was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red
Created
Ellen McDonagh (Genomics England Curator)TIMM8A was created by ellenmcdonagh