This Panel is marked as Internal
Dystonia - childhood onset
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
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- Dystonia
- OMIM
- 612848
- Clinvar variants
- Variants in SDHAF1
- Penetrance
- None
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Inherited white matter disorders
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorders
- Early onset dystonia
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Likely inborn error of metabolism
- Fetal anomalies
- Mitochondrial disorder with complex II deficiency
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: SDHAF1 was added gene: SDHAF1 was added to Dystonia - childhood onset. Sources: Expert Review Red Mode of inheritance for gene: SDHAF1 was set to Unknown Phenotypes for gene: SDHAF1 were set to Dystonia