Skeletal dysplasia
Gene: PSPH
At least 3 cases reported - one also with Williams-Beuren syndrome. Clinical features include pre- and postnatal growth retardation; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Phosphoserine phosphatase deficiency 614023
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: PSPH; Initial rating suggestion: green if SDCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least three variants reportedCreated: 29 Jul 2016, 1:30 p.m.
Tier 3Created: 17 Jun 2016, 8:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Phosphoserine phosphatase deficiency 614023
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Phosphoserine phosphatase deficiency 614023 for gene: PSPH
Source NHS GMS was added to PSPH. 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 PSPH were set to Phosphoserine phosphatase deficiency 614023
Mode of inheritance for PSPH was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
PSPH was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
PSPH was added to Unexplained skeletal dysplasiapanel. Sources:
PSPH was created by sleigh