Likely inborn error of metabolism - targeted testing not possible
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, 10:24 a.m. | Last Modified: 1 Feb 2023, 10:24 a.m.
Panel Version: 3.6
This gene was recently included on a gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) on behalf of GMS Mitochondrial providers, indicating that the MOI should be updated from 'biallelic' only to 'both mono- and biallelic' on Mitochondrial panels (R354 and R63). As there was sufficient supporting evidence for the change, the MOI should also be updated to 'both' on this panel at the next GMS review. Heterozygous variants can be associated with abnormal mitochondrial accumulation and therefore also within the scope of the panel.Created: 30 Aug 2022, 9:08 a.m. | Last Modified: 30 Aug 2022, 9:08 a.m.
Panel Version: 2.265
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cardiomyopathy, dilated, 1GG, OMIM: 613642; Mitochondrial complex II deficiency, nuclear type 1, OMIM: 252011; Neurodegeneration with ataxia and late-onset optic atrophy, OMIM: 619259
Publications
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.
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 27604308
Phenotypes for gene: SDHA were changed from Leigh syndrome, 256000; Paragangliomas 5, 614165; Cardiomyopathy, dilated, 1GG, 613642; Isolated complex II deficiency; Mitochondrial respiratory chain complex II deficiency, 252011; Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Mitochondrial Respiratory Chain Complex II Deficiency 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.
Source NHS GMS was added to SDHA. Source London North GLH was added to SDHA.
Ellen McDonagh: Comment on mode of pathogenici
Added phenotypes Paragangliomas 5, 614165; Leigh syndrome, 256000; Cardiomyopathy, dilated, 1GG, 613642; Isolated complex II deficiency; Mitochondrial respiratory chain complex II deficiency, 252011; Mitochondrial Respiratory Chain Complex II Deficiency for gene: SDHA
gene: SDHA was added gene: SDHA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SDHA were set to 27604308 Phenotypes for gene: SDHA were set to Paragangliomas 5, 614165; Leigh syndrome, 256000; Cardiomyopathy, dilated, 1GG, 613642; Isolated complex II deficiency; Mitochondrial respiratory chain complex II deficiency, 252011; Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Mitochondrial Respiratory Chain Complex II Deficiency