White matter disorders and cerebral calcification - narrow panel
Gene: SDHAEnsemblGeneIds (GRCh38): ENSG00000073578
EnsemblGeneIds (GRCh37): ENSG00000073578
OMIM: 600857, Gene2Phenotype
SDHA is in 27 panels
3 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.
Panel Version: 2.9
Ivone Leong (Genomics England Curator)
Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be promoted to Green at the next review.Created: 14 Jun 2021, 12:44 p.m. | Last Modified: 14 Jun 2021, 12:44 p.m.
Panel Version: 1.178
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, 12:38 p.m. | Last Modified: 14 Jun 2021, 12:38 p.m.
Panel Version: 1.177
Zornitza Stark (Australian Genomics)
Biallelic variants cause mitochondrial disease, with leukodystrophy a documented feature.Created: 16 Sep 2020, 4:27 a.m. | Last Modified: 16 Sep 2020, 4:27 a.m.
Panel Version: 1.14
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial respiratory chain complex II deficiency, MIM#252011
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Mitochondrial respiratory chain complex II deficiency, OMIM:252011
- OMIM
- 600857
- Clinvar variants
- Variants in SDHA
- Penetrance
- None
- Publications
- 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
Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q2_21_rating was removed from gene: SDHA.
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to SDHA. Source Expert Review Green was added to SDHA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: sdha has been classified as Amber List (Moderate Evidence).
Added Tag
Ivone Leong (Genomics England Curator)Tag Q2_21_rating tag was added to gene: SDHA.
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: SDHA were set to 22972948
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: SDHA were changed from Mitochondrial respiratory chain complex II deficiency, OMIM:252011 to Mitochondrial respiratory chain complex II deficiency, OMIM:252011
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
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: SDHA was added gene: SDHA was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SDHA were set to 22972948 Phenotypes for gene: SDHA were set to Mitochondrial respiratory chain complex II deficiency, MIM#252011