1. Panels
  2. Miscellaneous Metabolic Disorders
  3. DHCR24
STRs in panel
Prev Next
Regions in panel
Prev Next

Miscellaneous Metabolic Disorders

Gene: DHCR24

Green List (high evidence)
DHCR24 (24-dehydrocholesterol reductase)
EnsemblGeneIds (GRCh38): ENSG00000116133
EnsemblGeneIds (GRCh37): ENSG00000116133
OMIM: 606418, Gene2Phenotype
DHCR24 is in 16 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 4 families reported. Desmosterolosis is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders) and is an inborn error of sterol metabolism.
Sources: NHS GMS
Created: 3 Feb 2021, 2:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Desmosterolosis MIM#602398; Disorders of the metabolism of sterols

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 3 Feb 2021, 2:40 a.m.

Panel version: 0.123

History Filter Activity

3 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dhcr24 has been classified as Green List (High Evidence).

3 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dhcr24 has been classified as Green List (High Evidence).

3 Feb 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: DHCR24 was added gene: DHCR24 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHCR24 were set to 11519011; 21559050; 21671375 Phenotypes for gene: DHCR24 were set to Desmosterolosis MIM#602398; Disorders of the metabolism of sterols Review for gene: DHCR24 was set to GREEN gene: DHCR24 was marked as current diagnostic