Early onset dystonia
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
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Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- Deafness-Dystonia-Optic Neuronopathy Syndrome
- OMIM
- 300356
- Clinvar variants
- Variants in TIMM8A
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- DDG2P
- Monogenic hearing loss
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Structural eye disease
- Retinal disorders
- Early onset dystonia
- Possible mitochondrial disorder - nuclear genes
- Mitochondrial disorders
- Likely inborn error of metabolism
- Glaucoma (developmental)
- Adult onset dystonia, chorea or related movement disorder
- Fetal anomalies
- Optic neuropathy
History Filter Activity
17 Oct 2016, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.
28 Apr 2015, Gel status: 1
Added New Source
GEL ()TIMM8A was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory