Skeletal dysplasia
Gene: CHST3
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
Spondyloepiphyseal dysplasia with congenital joint dislocations (recessive Larsen syndrome) 143095
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: CHST3; 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, 8:02 a.m.
Tier 1Created: 17 Jun 2016, 8:02 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondyloepiphyseal dysplasia with congenital joint dislocations (recessive Larsen syndrome) 143095
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Spondyloepiphyseal dysplasia with congenital joint dislocations (recessive Larsen syndrome) 143095 for gene: CHST3
Source NHS GMS was added to CHST3. 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 CHST3 were set to Spondyloepiphyseal dysplasia with congenital joint dislocations (recessive Larsen syndrome) 143095
This gene has been classified as Green List (High Evidence).
CHST3 was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen CHST3 was added to Unexplained skeletal dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services CHST3 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Red Model of inheritance for gene CHST3 was set to BIALLELIC, autosomal or pseudoautosomal
CHST3 was added to Unexplained skeletal dysplasiapanel. Sources:
CHST3 was created by sleigh