Sarcoma 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
-
- NHS GMS
- Expert Review Amber
- Expert Review Amber
- Expert List
- OMIM
- 600857
- Clinvar variants
- Variants in SDHA
- Penetrance
- None
- Panels with this gene
-
- Mitochondrial disorder with complex II deficiency
- Structural basal ganglia disorders
- Inherited phaeochromocytoma and paraganglioma
- Left Ventricular Noncompaction Cardiomyopathy
- Childhood onset dystonia, chorea or related movement disorder
- Sarcoma cancer susceptibility
- Inherited predisposition to GIST
- Undiagnosed metabolic disorders
- Dilated Cardiomyopathy and conduction defects
- Intellectual disability
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Optic neuropathy
- Mitochondrial disorders
- Fetal anomalies
- Adult solid tumours for rare disease
- Paediatric or syndromic cardiomyopathy
- Sarcoma susceptibility
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Adult solid tumours cancer susceptibility
- Adult onset dystonia, chorea or related movement disorder
- 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
1 Aug 2019, Gel status: 2
Added New Source
Rebecca Foulger (Genomics England curator)Source NHS GMS was added to SDHA.
23 Jul 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance
Rebecca Foulger (Genomics England curator)gene: SDHA was added gene: SDHA was added to Sarcoma susceptibility. Sources: Expert Review Amber Mode of inheritance for gene: SDHA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown