Skeletal dysplasia
Gene: AGPS
disproportionately short stature primarily affecting the proximal parts of the extremities, Chondrodysplasia punctata gp of SD. Green - greater than 3 cases reported; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhizomelic chondrodysplasia punctata, type 3 600121
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: AGPS; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.Created: 13 Jul 2016, 7:32 a.m.
Tier 1Created: 15 Jun 2016, 2:01 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhizomelic chondrodysplasia punctata, type 3 600121
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Rhizomelic chondrodysplasia punctata, type 3 600121 for gene: AGPS
Source NHS GMS was added to AGPS. 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 AGPS were set to Foundation Trust) Rhizomelic chondrodysplasia punctata, type 3 600121
AGPS was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory
AGPS was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen AGPS was added to Unexplained skeletal dysplasiapanel. Source: UKGTN AGPS was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Green
AGPS was added to Unexplained skeletal dysplasiapanel. Sources:
AGPS was created by sleigh