Mitochondrial disorders AD Victorian Clinical Genetics Services
Gene: SUCLA2EnsemblGeneIds (GRCh38): ENSG00000136143
EnsemblGeneIds (GRCh37): ENSG00000136143
OMIM: 603921, Gene2Phenotype
SUCLA2 is in 20 panels
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 603921
- Clinvar variants
- Variants in SUCLA2
- Penetrance
- None
- Panels with this gene
-
- Structural basal ganglia disorders
- Intellectual disability
- Mitochondrial disorders
- Mitochondrial DNA maintenance disorder
- White matter disorders and cerebral calcification - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Acute rhabdomyolysis
- Undiagnosed metabolic disorders
- Fetal anomalies
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Rhabdomyolysis and metabolic muscle disorders
- Adult onset neurodegenerative disorder
- Early onset or syndromic epilepsy
- Hereditary neuropathy or pain disorder
- Early onset dystonia
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)SUCLA2 was added to Mitochondrial disorders AD Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
Created
Sarah Leigh (Genomics England Curator)SUCLA2 was created by Sarah Leigh