Skeletal dysplasia
Gene: CHSY1
Listed in Brachydactylies (with extraskeletal manifestations) gp 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
Temtamy preaxial brachydactyly syndrome 605282
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: CHSY1; 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, 1:04 p.m.
Tier 2Created: 17 Jun 2016, 8:02 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Temtamy preaxial brachydactyly syndrome 605282
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Temtamy preaxial brachydactyly syndrome 605282 for gene: CHSY1
Source NHS GMS was added to CHSY1. 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 CHSY1 were set to Temtamy preaxial brachydactyly syndrome 605282
Mode of inheritance for CHSY1 was changed to BIALLELIC, autosomal or pseudoautosomal
CHSY1 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,UKGTN
CHSY1 was created by sleigh
CHSY1 was added to Unexplained skeletal dysplasiapanel. Sources: