GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: DHCR24

DHCR24 (24-dehydrocholesterol reductase)
EnsemblGeneIds (GRCh38): ENSG00000116133
EnsemblGeneIds (GRCh37): ENSG00000116133
OMIM: 606418, Gene2Phenotype
DHCR24 is in 11 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

neonatal osteosclerotic dysplasias gp of SD. At least 3 cases reported.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Desmosterolosis 602398

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Desmosterolosis 602398

OMIM

606418

Clinvar variants

Variants in DHCR24

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: DHCR24 was added gene: DHCR24 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DHCR24 were set to Desmosterolosis 602398

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: DHCR24