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
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Early onset or syndromic epilepsy
- Acute rhabdomyolysis
- Paediatric pseudo-obstruction syndrome
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Rhabdomyolysis and metabolic muscle disorders
- Childhood onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
- Possible mitochondrial disorder - nuclear genes
- Hereditary neuropathy
- Mitochondrial DNA maintenance disorder
- Fetal anomalies
- Mitochondrial disorders
- Early onset dystonia
- Adult onset neurodegenerative disorder
- 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