Early onset or syndromic epilepsy
Gene: PSAT1
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
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
Comment when marking as ready: Based on reviewers' comments.Created: 11 Dec 2018, 1:32 p.m.
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
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to PSAT1.
Source NHS GMS was added to PSAT1.
Zornitza Stark: I can only find 3 case reports
Gene: psat1 has been classified as Amber List (Moderate Evidence).
Expert Review Amber was added to PSAT1. Panel: Genetic Epilepsy Syndromes
PSAT1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
PSAT1 was created by Sarah Leigh