Inherited white matter disorders
Gene: SDHAEnsemblGeneIds (GRCh38): ENSG00000073578
EnsemblGeneIds (GRCh37): ENSG00000073578
OMIM: 600857, Gene2Phenotype
SDHA is in 27 panels
3 reviews
Ivone Leong (Genomics England Curator)
Comment on publications: PMID: 24781757. 4 unrelated patients. 1/4 had leukodystrophy, 1/4 had cerebral atrophy and 1/4 had both leukodystrophy and cerebral atrophy. PMID: 22972948. 2 unrelated patients both had leukodystrophy.Created: 14 Jun 2021, 12:45 p.m. | Last Modified: 14 Jun 2021, 12:45 p.m.
Panel Version: 1.124
Comment on list classification: Promoted from Red to Green. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association.Created: 14 Jun 2021, 12:44 p.m. | Last Modified: 14 Jun 2021, 12:44 p.m.
Panel Version: 1.122
Sarah Leigh (Genomics England Curator)
Comment on list classification: This gene is awaiting curator evaluation and rating.Created: 19 Dec 2018, 1:04 p.m.
Zornitza Stark (Australian Genomics)
Biallelic variants cause mitochondrial disease, with leukodystrophy a documented feature.Created: 24 Jul 2018, 6:27 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial respiratory chain complex II deficiency, MIM#252011
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Mitochondrial respiratory chain complex II deficiency, OMIM:252011
- OMIM
- 600857
- Clinvar variants
- Variants in SDHA
- Penetrance
- None
- Publications
- Panels with this gene
-
- DDG2P
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- White matter disorders and cerebral calcification - narrow panel
- Neuroendocrine cancer pertinent cancer susceptibility
- Possible mitochondrial disorder - nuclear genes
- Early onset or syndromic epilepsy
- Mitochondrial disorder with complex II deficiency
- Structural basal ganglia disorders
- Inherited phaeochromocytoma and paraganglioma
- Left Ventricular Noncompaction Cardiomyopathy
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Sarcoma cancer susceptibility
- Inherited predisposition to GIST
- Undiagnosed metabolic disorders
- Intellectual disability
- Dilated Cardiomyopathy and conduction defects
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Optic neuropathy
- Fetal anomalies
- Adult solid tumours for rare disease
- Childhood onset dystonia, chorea or related movement disorder
- Sarcoma susceptibility
- Mitochondrial disorders
- Adult solid tumours cancer susceptibility
- Adult onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: SDHA were changed from Mitochondrial respiratory chain complex II deficiency, MIM#252011 to Mitochondrial respiratory chain complex II deficiency, OMIM:252011
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: SDHA were set to 22972948
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: sdha has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: sdha has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: sdha has been classified as Red List (Low Evidence).
Added New Source
Zornitza Stark (Australian Genomics)SDHA was added to Inherited white matter disorders panel. Sources: Expert list
Created
Zornitza Stark (Australian Genomics)SDHA was created by Zornitza Stark