This Panel is marked as Internal
Dystonia - childhood onset
Gene: TIMM8A
TIMM8A (translocase of inner mitochondrial membrane 8A)
EnsemblGeneIds (GRCh38): ENSG00000126953
EnsemblGeneIds (GRCh37): ENSG00000126953
OMIM: 300356, Gene2Phenotype
TIMM8A is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000126953
EnsemblGeneIds (GRCh37): ENSG00000126953
OMIM: 300356, Gene2Phenotype
TIMM8A is in 16 panels
0 reviews
Details
- Sources
-
- Expert Review Red
- Phenotypes
-
- Deafness-Dystonia-Optic Neuronopathy Syndrome
- OMIM
- 300356
- Clinvar variants
- Variants in TIMM8A
- Penetrance
- None
- Panels with this gene
-
- Monogenic hearing loss
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Intellectual disability
- Retinal disorders
- Optic neuropathy
- Structural eye disease
- Mitochondrial disorders
- Fetal anomalies
- Likely inborn error of metabolism
- Early onset dystonia
- Possible mitochondrial disorder - nuclear genes
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Glaucoma (developmental)
History Filter Activity
9 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Eleanor Williams: Updated to green when making t
19 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: TIMM8A was added gene: TIMM8A was added to Dystonia - childhood onset. Sources: Expert Review Red Mode of inheritance for gene: TIMM8A was set to Phenotypes for gene: TIMM8A were set to Deafness-Dystonia-Optic Neuronopathy Syndrome