Skeletal dysplasia
Gene: CHST14
Listed In sulphation disorders group of SD. AR. At least 3 cases reported.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos syndrome, musculocontractural type 1 601776
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: CHST14; 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: 11 Jul 2016, 1:01 p.m.
Tier 2Created: 17 Jun 2016, 8:02 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos syndrome, musculocontractural type 1 601776
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Ehlers-Danlos syndrome, musculocontractural type 1 601776 for gene: CHST14
Source NHS GMS was added to CHST14. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for CHST14 were set to Ehlers-Danlos syndrome, musculocontractural type 1 601776
This gene has been classified as Green List (High Evidence).
Mode of inheritance for CHST14 was changed to BIALLELIC, autosomal or pseudoautosomal
CHST14 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,UKGTN
CHST14 was added to Unexplained skeletal dysplasiapanel. Sources:
CHST14 was created by sleigh