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
-
- Neuroendocrine cancer pertinent cancer susceptibility
- Adult onset dystonia, chorea or related movement disorder
- Paediatric or syndromic cardiomyopathy
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Structural basal ganglia disorders
- Inherited phaeochromocytoma and paraganglioma
- Adult solid tumours cancer susceptibility
- Left Ventricular Noncompaction Cardiomyopathy
- Early onset or syndromic epilepsy
- Paediatric pseudo-obstruction syndrome
- Mitochondrial disorder with complex II deficiency
- Sarcoma cancer susceptibility
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Dilated Cardiomyopathy and conduction defects
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
- Possible mitochondrial disorder - nuclear genes
- Adult solid tumours for rare disease
- Fetal anomalies
- Optic neuropathy
- Mitochondrial disorders
- Sarcoma susceptibility
- Intellectual disability
- Inherited predisposition to GIST
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