Left Ventricular Noncompaction Cardiomyopathy
Gene: SDHAEnsemblGeneIds (GRCh38): ENSG00000073578
EnsemblGeneIds (GRCh37): ENSG00000073578
OMIM: 600857, Gene2Phenotype
SDHA is in 27 panels
1 review
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Details
- Sources
-
- Expert Review Red
- Expert list
- OMIM
- 600857
- Clinvar variants
- Variants in SDHA
- Penetrance
- Complete
- Panels with this gene
-
- Mitochondrial disorder with complex II deficiency
- Structural basal ganglia disorders
- Inherited phaeochromocytoma and paraganglioma
- Left Ventricular Noncompaction Cardiomyopathy
- Childhood onset dystonia, chorea or related movement disorder
- Sarcoma cancer susceptibility
- Inherited predisposition to GIST
- Undiagnosed metabolic disorders
- Dilated Cardiomyopathy and conduction defects
- Intellectual disability
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Optic neuropathy
- Mitochondrial disorders
- Fetal anomalies
- Adult solid tumours for rare disease
- Paediatric or syndromic cardiomyopathy
- Sarcoma susceptibility
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Adult solid tumours cancer susceptibility
- Adult onset dystonia, chorea or related movement disorder
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Neuroendocrine cancer pertinent cancer susceptibility
- Early onset or syndromic epilepsy
History Filter Activity
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)SDHA was added to Left ventricular non-compaction cardiomyopathypanel. Sources: Expert list