Structural basal ganglia disorders
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
3 reviews
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Confirmed on G2P and OMIM.Created: 10 Feb 2016, 9:37 a.m.
Comment on list classification: Confirmed DD gene for Leigh Syndrome, and reviewer suggests this should be promoted from amber.Created: 10 Feb 2016, 9:36 a.m.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- OMIM
- 600857
- Clinvar variants
- Variants in SDHA
- Penetrance
- Complete
- 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
- Early onset or syndromic epilepsy
- Fetal anomalies
- Neuroendocrine cancer pertinent cancer susceptibility
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Mitochondrial disorder with complex II deficiency
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Inherited phaeochromocytoma and paraganglioma
- Left Ventricular Noncompaction Cardiomyopathy
- Adult onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- DDG2P
- Sarcoma cancer susceptibility
- Inherited predisposition to GIST
- Dilated Cardiomyopathy and conduction defects
- Optic neuropathy
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Adult solid tumours for rare disease
- Likely inborn error of metabolism
History Filter Activity
16 Mar 2017, Gel status: 4
panel promoted to version 1
Sarah Leigh (Genomics England Curator)promoted 16/03/2017
2 Mar 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
1 Mar 2017, Gel status: 0
Created
Manju Kurian (UCL-Institute of Child Health)SDHA was created by Manju
1 Mar 2017, Gel status: 0
Added New Source
Manju Kurian (UCL-Institute of Child Health)SDHA was added to Structural basal ganglia disorderspanel. Sources: Literature