Mitochondrial disorder with complex II deficiency
Gene: SDHAThe mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 11:40 a.m. | Last Modified: 1 Feb 2023, 11:40 a.m.
Panel Version: 1.11
Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, indicating that the MOI should be updated from 'biallelic' only to 'both mono- and biallelic' on this panel. Heterozygous variants can be associated with abnormal mitochondrial accumulation and therefore also within the scope of this panel.Created: 30 Aug 2022, 9:31 a.m. | Last Modified: 30 Aug 2022, 9:31 a.m.
Panel Version: 1.5
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex II deficiency, nuclear type 1, OMIM: 252011; Neurodegeneration with ataxia and late-onset optic atrophy, OMIM: 619259; Cardiomyopathy, dilated, 1GG, OMIM: 613642
Publications
Variants in this GENE are reported as part of current diagnostic practice
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: SDHA; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.Created: 1 Feb 2019, 4:31 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial respiratory chain complex II deficiency, 252011; Leigh syndrome, 256000
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.
Tag Q3_22_MOI was removed from gene: SDHA. Tag Q3_22_NHS_review was removed from gene: SDHA.
Mode of inheritance for gene SDHA was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SDHA were set to
Phenotypes for gene: SDHA were changed from Mitochondrial respiratory chain complex II deficiency, 252011; Leigh syndrome, 256000 to Mitochondrial complex II deficiency, nuclear type 1, OMIM:252011; Neurodegeneration with ataxia and late-onset optic atrophy, OMIM:619259; Cardiomyopathy, dilated, 1GG, OMIM:613642
Tag Q3_22_MOI tag was added to gene: SDHA. Tag Q3_22_NHS_review tag was added to gene: SDHA.
gene: SDHA was added gene: SDHA was added to Mitochondrial disorder with complex II deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SDHA were set to Mitochondrial respiratory chain complex II deficiency, 252011; Leigh syndrome, 256000