Early onset or syndromic epilepsy
Gene: PDSS2
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
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.
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
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to PDSS2.
Source NHS GMS was added to PDSS2.
Zornitza Stark: Seizures are part of the pheno
Gene: pdss2 has been classified as Amber List (Moderate Evidence).
Expert Review Amber was added to PDSS2. Panel: Genetic Epilepsy Syndromes
PDSS2 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
PDSS2 was created by Sarah Leigh