Early onset dystonia
Gene: SUCLA2
SUCLA2 (succinate-CoA ligase ADP-forming beta subunit)
EnsemblGeneIds (GRCh38): ENSG00000136143
EnsemblGeneIds (GRCh37): ENSG00000136143
OMIM: 603921, Gene2Phenotype
SUCLA2 is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000136143
EnsemblGeneIds (GRCh37): ENSG00000136143
OMIM: 603921, Gene2Phenotype
SUCLA2 is in 20 panels
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Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- Dystonia
- OMIM
- 603921
- Clinvar variants
- Variants in SUCLA2
- Penetrance
- Complete
- Panels with this gene
-
- Structural basal ganglia disorders
- Mitochondrial DNA maintenance disorder
- White matter disorders and cerebral calcification - narrow panel
- Acute rhabdomyolysis
- Intellectual disability
- Early onset or syndromic epilepsy
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Inherited white matter disorders
- Fetal anomalies
- Rhabdomyolysis and metabolic muscle disorders
- Hereditary neuropathy or pain disorder
- Early onset dystonia
- Likely inborn error of metabolism
- Adult onset neurodegenerative disorder
- Possible mitochondrial disorder - nuclear genes
- Paediatric pseudo-obstruction syndrome
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
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 ()SUCLA2 was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory