Neuroendocrine cancer pertinent 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
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Details checked against the original gene list from Clare Turnbull.Created: 26 Jul 2017, 12:58 p.m.
Clare Turnbull (Queen Mary University London)
Phenotypes
Neuroendocrine cancer
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Paragangliomas 5, OMIM:614165
- OMIM
- 600857
- Clinvar variants
- Variants in SDHA
- Penetrance
- Complete
- Panels with this gene
-
- Mitochondrial disorder with complex II deficiency
- Structural basal ganglia disorders
- Inherited phaeochromocytoma and paraganglioma
- Likely inborn error of metabolism
- Left Ventricular Noncompaction Cardiomyopathy
- Sarcoma cancer susceptibility
- Inherited predisposition to GIST
- Undiagnosed metabolic disorders
- Dilated Cardiomyopathy and conduction defects
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Optic neuropathy
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Adult solid tumours for rare disease
- Paediatric or syndromic cardiomyopathy
- Sarcoma susceptibility
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Adult solid tumours cancer susceptibility
- Early onset or syndromic epilepsy
- Adult onset dystonia, chorea or related movement disorder
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Fetal anomalies
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Neuroendocrine cancer pertinent cancer susceptibility
History Filter Activity
30 Aug 2022, Gel status: 3
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SDHA were changed from Neuroendocrine cancer to Paragangliomas 5, OMIM:614165
7 Sep 2018, Gel status: 3
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Ellen McDonagh: Comment on list classification
26 Jul 2017, Gel status: 4
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for SDHA was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
26 Jul 2017, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
19 Jul 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)SDHA was added to Neuroendocrine cancerpanel. Sources: Expert list
19 Jul 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)SDHA was created by ellenmcdonagh