Skeletal dysplasia
Gene: DYM
spondylo-epi-(meta)-physeal dysplasias gp of SD. Several cases reported; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyggve-Melchior-Clausen disease 223800; Smith-McCort dysplasia 607326
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: DYM; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 12:45 p.m.
Tier 1Created: 17 Jun 2016, 8:03 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyggve-Melchior-Clausen disease 223800; Smith-McCort dysplasia 607326
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Dyggve-Melchior-Clausen disease 223800; Smith-McCort dysplasia 607326 for gene: DYM
Source NHS GMS was added to DYM. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for DYM were set to Dyggve-Melchior-Clausen disease 223800; Smith-McCort dysplasia 607326
Mode of inheritance for DYM was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
DYM was added to Unexplained skeletal dysplasiapanel. Sources:
DYM was created by sleigh