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