Structural eye disease
Gene: TIMM8AEnsemblGeneIds (GRCh38): ENSG00000126953
EnsemblGeneIds (GRCh37): ENSG00000126953
OMIM: 300356, Gene2Phenotype
TIMM8A is in 16 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mohr-Tranebjaerg syndrome; 304700
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mohr-Tranebjaerg syndrome, 304700
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Mohr-Tranebjaerg syndrome, 304700
- Eye Disorders
- OMIM
- 300356
- Clinvar variants
- Variants in TIMM8A
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- DDG2P
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Fetal anomalies
- Optic neuropathy
- Early onset dystonia
- Retinal disorders
- Adult onset neurodegenerative disorder
- Possible mitochondrial disorder - nuclear genes
- Intellectual disability
- Monogenic hearing loss
- Glaucoma (developmental)
- Adult onset dystonia, chorea or related movement disorder
- Structural eye disease
History Filter Activity
Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)Source NHS GMS was added to TIMM8A. Mode of inheritance for gene TIMM8A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Mohr-Tranebjaerg syndrome, 304700 for gene: TIMM8A
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: TIMM8A was added gene: TIMM8A was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: TIMM8A was set to Phenotypes for gene: TIMM8A were set to Eye Disorders