Early onset or syndromic epilepsy

Gene: PSPH

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)

PMID 25080166 reports a consanguinous family with 7 individuals with developmental delay and all developed tonic-clonic or petit mal seizures.

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
Phosphoserine phosphatase deficiency, 614023

Comment when marking as ready: Kept as Amber due to expert review.

Created: 11 Dec 2018, 2:46 p.m.

I don't know

Seizures are reported as part of the phenotype of this metabolic disorder; however, low number of reported cases (unless we consider Neu-Laxova as part of the spectrum), and one of the cases had Williams syndrome as well, making the clinical picture more complex.

Created: 20 Aug 2018, 1:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Phosphoserine phosphatase deficiency, MIM#614023

Publications

• 25080166
• 26589312
• 14673469

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