Left Ventricular Noncompaction Cardiomyopathy
Gene: SDHA
SDHA (succinate dehydrogenase complex flavoprotein subunit A)
EnsemblGeneIds (GRCh38): ENSG00000073578
EnsemblGeneIds (GRCh37): ENSG00000073578
OMIM: 600857, Gene2Phenotype
SDHA is in 27 panels
EnsemblGeneIds (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
-
- Sarcoma susceptibility
- Optic neuropathy
- Fetal anomalies
- Inherited predisposition to GIST
- Early onset or syndromic epilepsy
- 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
- Inherited phaeochromocytoma and paraganglioma
- Adult solid tumours cancer susceptibility
- Likely inborn error of metabolism
- Left Ventricular Noncompaction Cardiomyopathy
- Paediatric pseudo-obstruction syndrome
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Dystonia, chorea or related movement disorder, adult onset
- Sarcoma cancer susceptibility
- Undiagnosed metabolic disorders
- Dilated Cardiomyopathy and conduction defects
- Mitochondrial disorder with complex II deficiency
- Inherited white matter disorders
- Dystonia, chorea or related movement disorder, childhood onset
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Adult solid tumours for rare disease
History Filter Activity
11 Feb 2016, Gel status: 1
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
13 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)SDHA was added to Left ventricular non-compaction cardiomyopathypanel. Sources: Expert list