Sarcoma cancer susceptibility
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
4 reviews
Ellen McDonagh (Genomics England Curator)
This gene was added to this panel after feedback from Laura King (Great Ormond Street Hospital, London) to include genes from the Familial rhabdomyosarcoma gene panel (code 290 version 1.4) and the Inherited predisposition to GIST gene panel (code 523, version 0.20). The highest rating for this gene from these two panels was Green, as captured here in this review.Created: 13 Mar 2019, 2:56 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rachel Robinson (Leeds Genetics Laboratory)
Variants in this GENE are reported as part of current diagnostic practice
Lara Hawkes (Genomics England)
Clare Turnbull (Queen Mary University London)
Tumor Suppressor.Created: 5 Jul 2017, 12:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
gastrointestinal stromal tumors
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Expert List
- OMIM
- 600857
- Clinvar variants
- Variants in SDHA
- Penetrance
- None
- Panels with this gene
-
- Inherited predisposition to GIST
- DDG2P
- Neuroendocrine cancer pertinent cancer susceptibility
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorders
- White matter disorders and cerebral calcification - childhood onset
- Likely inborn error of metabolism
- Structural basal ganglia disorders
- Inherited phaeochromocytoma and paraganglioma
- Paediatric pseudo-obstruction syndrome
- Adult solid tumours cancer susceptibility
- Left Ventricular Noncompaction Cardiomyopathy
- Early onset or syndromic epilepsy
- Sarcoma cancer susceptibility
- Undiagnosed metabolic disorders
- Dilated Cardiomyopathy and conduction defects
- Mitochondrial disorder with complex II deficiency
- Inherited white matter disorders
- Fetal anomalies
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Adult solid tumours for rare disease
- Possible mitochondrial disorder, nuclear genes
- Sarcoma susceptibility
- Optic neuropathy
- Intellectual disability
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
History Filter Activity
13 Mar 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: SDHA was added gene: SDHA was added to Sarcoma pertinent cancer susceptibility. Sources: Expert List,Expert Review Amber Mode of inheritance for gene: SDHA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown