Skeletal dysplasia
Gene: PSAT1
>3 families reported. Clinical features include severe congenital malformations including abnormal craniofacial features, microcephaly, intrauterine growth retardation, ichthyosis, flexion deformities, limb malformations; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neu-Laxova syndrome 2 616038
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: PSAT1; Initial rating suggestion: green if SDCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotypes in OMIM and G2P. At least three variants reported Neu-Laxova syndrome 2 616038Created: 29 Jul 2016, 1:26 p.m.
Comment on phenotypes: Variants also reported in Phosphoserine aminotransferase deficiency 610992Created: 29 Jul 2016, 1:25 p.m.
Tier 3Created: 17 Jun 2016, 8:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Phosphoserine aminotransferase deficiency 610992; Neu-Laxova syndrome 2 616038
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Neu-Laxova syndrome 2 616038 for gene: PSAT1
Source NHS GMS was added to PSAT1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for PSAT1 were set to Neu-Laxova syndrome 2 616038
Mode of inheritance for PSAT1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
PSAT1 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list
PSAT1 was added to Unexplained skeletal dysplasiapanel. Sources:
PSAT1 was created by sleigh