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