Inherited predisposition to GIST
Gene: SDHAEnsemblGeneIds (GRCh38): ENSG00000073578
EnsemblGeneIds (GRCh37): ENSG00000073578
OMIM: 600857, Gene2Phenotype
SDHA is in 27 panels
4 reviews
Ivone Leong (Genomics England Curator)
As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 31 Jul 2019, 1:06 p.m. | Last Modified: 31 Jul 2019, 1:06 p.m.
Panel Version: 0.21
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 Green
- NHS GMS
- Expert List
- Phenotypes
-
- Gastrointestinal stromal tumours
- OMIM
- 600857
- Clinvar variants
- Variants in SDHA
- Penetrance
- None
- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SDHA were changed from to Gastrointestinal stromal tumours
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: SDHA was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: sdha has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: SDHA was added gene: SDHA was added to Inherited predisposition to GIST. Sources: Expert List,NHS GMS Mode of inheritance for gene: SDHA was set to