Adult onset dystonia, chorea or related movement disorder
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
Louise Daugherty (Genomics England Curator)
Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.Created: 13 Aug 2019, 11:57 a.m. | Last Modified: 13 Aug 2019, 11:57 a.m.
Panel Version: 0.100
Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019Created: 13 Aug 2019, 11:48 a.m. | Last Modified: 13 Aug 2019, 11:48 a.m.
Panel Version: 0.99
Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 1:19 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Mitochondrial phenotpye (LS) infancy/early childhoodCreated: 13 Aug 2019, 11:38 a.m. | Last Modified: 13 Aug 2019, 11:38 a.m.
Panel Version: 0.98
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- NHS GMS
- London North GLH
- Phenotypes
-
- Cardiomyopathy, dilated, 1GG, 613642
- Leigh syndrome, 256000
- Mitochondrial respiratory chain complex II deficiency, 252011
- OMIM
- 600857
- Clinvar variants
- Variants in SDHA
- Penetrance
- None
- Panels with this gene
-
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Sarcoma susceptibility
- Adult solid tumours cancer susceptibility
- Possible mitochondrial disorder - nuclear genes
- Mitochondrial disorders
- Likely inborn error of metabolism
- Neuroendocrine cancer pertinent cancer susceptibility
- Paediatric pseudo-obstruction syndrome
- Fetal anomalies
- Adult onset dystonia, chorea or related movement disorder
- Optic neuropathy
- Inherited predisposition to GIST
- Mitochondrial disorder with complex II deficiency
- Structural basal ganglia disorders
- Inherited phaeochromocytoma and paraganglioma
- Left Ventricular Noncompaction Cardiomyopathy
- White matter disorders and cerebral calcification - narrow panel
- Sarcoma cancer susceptibility
- Intellectual disability
- Early onset or syndromic epilepsy
- DDG2P
- Undiagnosed metabolic disorders
- Dilated Cardiomyopathy and conduction defects
- Paediatric or syndromic cardiomyopathy
- Childhood onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
- Adult solid tumours for rare disease
History Filter Activity
13 Aug 2019, Gel status: 1
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Red was added to SDHA. Rating Changed from Green List (high evidence) to Red List (low evidence)
23 Apr 2019, Gel status: 4
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to SDHA.
23 Apr 2019, Gel status: 4
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to SDHA.
9 Jan 2019, Gel status: 4
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: SDHA were changed from to Cardiomyopathy, dilated, 1GG, 613642; Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011
3 Jan 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: SDHA was added gene: SDHA was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal