Skeletal dysplasia
Gene: DHCR24
neonatal osteosclerotic dysplasias gp of SD. 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
Desmosterolosis 602398
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: DHCR24; 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, 12:44 p.m.
Tier 1Created: 17 Jun 2016, 8:03 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Desmosterolosis 602398
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Desmosterolosis 602398 for gene: DHCR24
Source NHS GMS was added to DHCR24. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for DHCR24 were set to Desmosterolosis 602398
Mode of inheritance for DHCR24 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
DHCR24 was created by sleigh
DHCR24 was added to Unexplained skeletal dysplasiapanel. Sources: