Early onset or syndromic epilepsy

Gene: PSAT1

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)

Limited evidence: Deficiency of phosphoserine aminotransferase (PSAT) is characterized biochemically by low plasma and cerebrospinal fluid (CSF) concentrations of serine and glycine and clinically by intractable seizures. PMID 17436247 identified two siblings with PSAT deficiency and the index case presented with intractable 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
Neu-Laxova syndrome 2, 616038 ; ?Phosphoserine aminotransferase deficiency, 610992

Publications

• 17436247

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

Created: 11 Dec 2018, 1:32 p.m.

I don't know

I can only find 3 case reports linking this gene to phosphoresce aminotransferase deficiency; of these, two had seizures. Neu-Laxova syndrome is allelic, and there is some question about whether these two entities represent manifestations of the same condition but with different severity.

Created: 20 Aug 2018, 1:28 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Phosphoserine aminotransferase deficiency, MIM#610992

Publications

• 17436247
• 26610677
• 26960553

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