Early onset or syndromic epilepsy
Gene: SDHA
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: Alison Callaway and John Taylor. Suggested gene rating: Amber.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Paragangliomas are associated with autosomal variants and this gene may be beter suited to different panel tests. Some evidence to suggest that this gene is associated with Leigh syndrome which can have seizures as a feature.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cardiomyopathy, dilated, 1GG, 613642 ; Leigh syndrome, 256000 ; , Mitochondrial; Mitochondrial respiratory chain complex II deficiency, 252011 ; Paragangliomas 5, 614165
Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least four variants reported in two unrelated cases, one of autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency and the other of Leigh syndrome. Seizures do not appear to be a common feature of either phenotype as there are numerous reports of biallelic SDHA variants in cases with out seizures (PMIDs: 22972948, 16798039,12794685, 10746566 & 7550341).Created: 4 Dec 2018, 11:56 a.m.
Comment on publications: PMIDs: 22972948, 16798039,12794685, 10746566 & 7550341 report biallelic variants, but no seizures.Created: 4 Dec 2018, 11:48 a.m.
Comment on phenotypes: Mitochondrial respiratory chain complex II deficiency 252011Created: 4 Dec 2018, 10:55 a.m.
Bi-allelic variants cause a mitochondrial disorder, and seizures are part of the phenotype.Created: 21 Aug 2018, 8:34 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leigh syndrome, MIM#256000
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to SDHA.
Source NHS GMS was added to SDHA.
Zornitza Stark: Bi-allelic variants cause a mi
Gene: sdha has been classified as Amber List (Moderate Evidence).
Publications for gene: SDHA were set to
Phenotypes for gene: SDHA were changed from to Leigh syndrome 256000; Mitochondrial respiratory chain complex II deficiency 252011
Mode of inheritance for gene: SDHA was changed from to BIALLELIC, autosomal or pseudoautosomal
Expert Review Amber was added to SDHA. Panel: Genetic Epilepsy Syndromes
SDHA was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
SDHA was created by Sarah Leigh