Mitochondrial disorders
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, 12:16 p.m. | Last Modified: 1 Feb 2023, 12:16 p.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: 2.123
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.
Source NHS GMS was added to 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 Isolated complex II deficiency; Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011; Cardiomyopathy, dilated, 1GG, 613642; Paragangliomas 5, 614165; 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.
This gene has been classified as Green List (High Evidence).
Phenotypes for SDHA were set to Isolated complex II deficiency; Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011; Cardiomyopathy, dilated, 1GG, 613642; Paragangliomas 5, 614165; Mitochondrial Respiratory Chain Complex II Deficiency
Mode of inheritance for SDHA was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene SDHA was changed to BIALLELIC, autosomal or pseudoautosomal
SDHA was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene SDHA was changed to BIALLELIC, autosomal or pseudoautosomal
SDHA was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene SDHA was changed to BIALLELIC, autosomal or pseudoautosomal
SDHA was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
SDHA was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services