Multiple Tumours
Gene: SDHAEnsemblGeneIds (GRCh38): ENSG00000073578
EnsemblGeneIds (GRCh37): ENSG00000073578
OMIM: 600857, Gene2Phenotype
SDHA is in 27 panels
0 reviews
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
-
- Fetal anomalies
- Mitochondrial disorder with complex II deficiency
- Structural basal ganglia disorders
- Inherited phaeochromocytoma and paraganglioma
- Undiagnosed metabolic disorders
- Left Ventricular Noncompaction Cardiomyopathy
- Sarcoma cancer susceptibility
- Intellectual disability
- Inherited predisposition to GIST
- Dilated Cardiomyopathy and conduction defects
- Likely inborn error of metabolism
- Inherited white matter disorders
- Possible mitochondrial disorder - nuclear genes
- Paediatric pseudo-obstruction syndrome
- Optic neuropathy
- Childhood onset dystonia, chorea or related movement disorder
- Adult solid tumours for rare disease
- Paediatric or syndromic cardiomyopathy
- Sarcoma susceptibility
- Adult solid tumours cancer susceptibility
- Adult onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Neuroendocrine cancer pertinent cancer susceptibility
- 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