Dilated Cardiomyopathy (DCM)
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 list
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Cardiomyopathy, dilated, 1GG
- OMIM
- 600857
- Clinvar variants
- Variants in SDHA
- Penetrance
- Complete
- Panels with this gene
-
- Sarcoma susceptibility
- Possible mitochondrial disorder - nuclear genes
- Adult solid tumours cancer susceptibility
- Paediatric or syndromic cardiomyopathy
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Fetal anomalies
- Neuroendocrine cancer pertinent cancer susceptibility
- Undiagnosed metabolic disorders
- Mitochondrial disorder with complex II deficiency
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Inherited phaeochromocytoma and paraganglioma
- White matter disorders and cerebral calcification - narrow panel
- Left Ventricular Noncompaction Cardiomyopathy
- Adult onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- DDG2P
- Sarcoma cancer susceptibility
- Inherited predisposition to GIST
- Dilated Cardiomyopathy and conduction defects
- Optic neuropathy
- Intellectual disability
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Adult solid tumours for rare disease
- Likely inborn error of metabolism
History Filter Activity
Added New Source
Ellen McDonagh (Genomics England Curator)SDHA was added to Dilated Cardiomyopathy (DCM)panel. Sources: Radboud University Medical Center, Nijmegen,Expert list
Added New Source
Ellen McDonagh (Genomics England Curator)SDHA was added to Dilated Cardiomyopathy (DCM)panel. Sources: Radboud University Medical Center, Nijmegen,Expert list