Early onset or syndromic epilepsy

Gene: PDSS2

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: Red.

Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.

Panel Version: 1.189

Red List (low evidence)

Insufficient evidence: phenotype reported either Leigh syndrome or a nephrotic syndrome, but very few variants in the literature to date.

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
Coenzyme Q10 deficiency primary 3, 614652

Comment when marking as ready: Based on reviewers' comments.

Created: 11 Dec 2018, 1:16 p.m.

I don't know

Seizures are part of the phenotype; however, I can only find 2 reported families in the literature.

Created: 18 Aug 2018, 10:19 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Coenzyme Q10 deficiency, primary, 3, MIM#614652

Publications

• 17186472
• 29032433

Variants in this GENE are reported as part of current diagnostic practice