Early onset dystonia
Gene: SDHAF1
SDHAF1 (succinate dehydrogenase complex assembly factor 1)
EnsemblGeneIds (GRCh38): ENSG00000205138
EnsemblGeneIds (GRCh37): ENSG00000205138
OMIM: 612848, Gene2Phenotype
SDHAF1 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000205138
EnsemblGeneIds (GRCh37): ENSG00000205138
OMIM: 612848, Gene2Phenotype
SDHAF1 is in 15 panels
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Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- Dystonia
- OMIM
- 612848
- Clinvar variants
- Variants in SDHAF1
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- Mitochondrial disorder with complex II deficiency
- White matter disorders and cerebral calcification - narrow panel
- Undiagnosed metabolic disorders
- Likely inborn error of metabolism
- Inherited white matter disorders
- Paediatric or syndromic cardiomyopathy
- Adult onset neurodegenerative disorder
- Mitochondrial disorders
- Intellectual disability
- Early onset dystonia
- Adult onset dystonia, chorea or related movement disorder
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Possible mitochondrial disorder - nuclear genes
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 ()SDHAF1 was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory