Early onset or syndromic epilepsy
Gene: PSPH
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
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.
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
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to PSPH.
Source NHS GMS was added to PSPH.
Zornitza Stark: Seizures are reported as part
Gene: psph has been classified as Amber List (Moderate Evidence).
Tag watchlist tag was added to gene: PSPH.
Phenotypes for gene: PSPH were changed from to Phosphoserine phosphatase deficiency 614023
Publications for gene: PSPH were set to
Mode of inheritance for gene: PSPH was changed from to BIALLELIC, autosomal or pseudoautosomal
Expert Review Amber was added to PSPH. Panel: Genetic Epilepsy Syndromes
PSPH was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
PSPH was created by Sarah Leigh