Multiple Tumours
Gene: SDHAEnsemblGeneIds (GRCh38): ENSG00000073578
EnsemblGeneIds (GRCh37): ENSG00000073578
OMIM: 600857, Gene2Phenotype
SDHA is in 27 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Neuro-endocrine Tumours- PCC and PGL
- OMIM
- 600857
- Clinvar variants
- Variants in SDHA
- Penetrance
- Complete
- Panels with this gene
-
- Neuroendocrine cancer pertinent cancer susceptibility
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Structural basal ganglia disorders
- Inherited phaeochromocytoma and paraganglioma
- Adult solid tumours cancer susceptibility
- Left Ventricular Noncompaction Cardiomyopathy
- Likely inborn error of metabolism
- Paediatric pseudo-obstruction syndrome
- Mitochondrial disorder with complex II deficiency
- Sarcoma cancer susceptibility
- Undiagnosed metabolic disorders
- Dilated Cardiomyopathy and conduction defects
- White matter disorders and cerebral calcification - narrow panel
- Inherited white matter disorders
- Adult solid tumours for rare disease
- Sarcoma susceptibility
- Optic neuropathy
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Mitochondrial disorders
- Inherited predisposition to GIST
- Fetal anomalies
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset dystonia, chorea or related movement disorder
- Early onset or syndromic epilepsy
History Filter Activity
Created
Ellen McDonagh (Genomics England Curator)SDHA was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)SDHA was added to Multiple Tumourspanel. Sources: Expert Review Green