Skeletal dysplasia

Gene: PSAT1

Green List (high evidence)

>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 Lester

Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neu-Laxova syndrome 2 616038

I don't know

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 SD

Created: 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 616038

Created: 29 Jul 2016, 1:26 p.m.

Comment on phenotypes: Variants also reported in Phosphoserine aminotransferase deficiency 610992

Created: 29 Jul 2016, 1:25 p.m.

Green List (high evidence)

Tier 3

Created: 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