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