Early onset or syndromic epilepsy

Gene: SDHA

I don't know

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

I don't know

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 252011

Created: 4 Dec 2018, 10:55 a.m.

Green List (high evidence)

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