Neuroendocrine cancer pertinent cancer susceptibility
Gene: SDHAEnsemblGeneIds (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
-
- Neuroendocrine cancer pertinent cancer susceptibility
- Mitochondrial disorders
- Paediatric or syndromic cardiomyopathy
- White matter disorders and cerebral calcification - childhood onset
- Structural basal ganglia disorders
- Inherited phaeochromocytoma and paraganglioma
- Paediatric pseudo-obstruction syndrome
- Adult solid tumours cancer susceptibility
- Left Ventricular Noncompaction Cardiomyopathy
- Dystonia, chorea or related movement disorder, adult onset
- Sarcoma cancer susceptibility
- Undiagnosed metabolic disorders
- Dilated Cardiomyopathy and conduction defects
- Mitochondrial disorder with complex II deficiency
- Inherited white matter disorders
- DDG2P
- Fetal anomalies
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Adult solid tumours for rare disease
- Intellectual disability
- Early onset or syndromic epilepsy
- Sarcoma susceptibility
- Possible mitochondrial disorder, nuclear genes
- Optic neuropathy
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Inherited predisposition to GIST
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SDHA were changed from Neuroendocrine cancer to Paragangliomas 5, OMIM:614165
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Ellen McDonagh: Comment on list classification
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for SDHA was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)SDHA was added to Neuroendocrine cancerpanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)SDHA was created by ellenmcdonagh