Renal ciliopathies

Gene: DHCR7

Green List (high evidence)

DHCR7 (7-dehydrocholesterol reductase)
EnsemblGeneIds (GRCh38): ENSG00000172893
EnsemblGeneIds (GRCh37): ENSG00000172893
OMIM: 602858, Gene2Phenotype
DHCR7 is in 30 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Red List (low evidence)

After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Created: 8 Mar 2022, 10:44 a.m. | Last Modified: 8 Mar 2022, 10:44 a.m.
Panel Version: 1.51
After consultation with the Genomics England rare disease clinical team it has been agreed that although there are some cystic changes in Smith-Lemli-Opitz syndrome it is not is not the main renal phenotype, and so it should be downgraded to RED on the renal ciliopathies panel at the next major review.
Created: 7 Jul 2020, 10:33 a.m. | Last Modified: 7 Jul 2020, 10:33 a.m.
Panel Version: 1.23

chirag patel (Genetic Health Queensland)

Red List (low evidence)

This is more a syndromic CAKUT gene, rather than a renal ciliopathy gene.
Created: 3 Jan 2020, 3:50 a.m. | Last Modified: 3 Jan 2020, 3:50 a.m.
Panel Version: 1.0

Alice Gardham (Genomics England)

Green List (high evidence)

Important differential diagnosis of ciliopathy
Created: 25 Jan 2017, 2:15 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Smith-Lemli-Opitz syndrome 270400

Publications

History Filter Activity

8 Mar 2022, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: DHCR7 were changed from Smith-Lemli-Opitz syndrome 270400 to Smith-Lemli-Opitz syndrome, OMIM:270400

8 Mar 2022, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag for-review was removed from gene: DHCR7.

7 Jul 2020, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag for-review tag was added to gene: DHCR7.

10 Jul 2019, Gel status: 3

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

Eleanor Williams (Genomics England Curator)

gene: DHCR7 was added gene: DHCR7 was added to Renal ciliopathies. Sources: UKGTN,Expert Review Green Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHCR7 were set to 9634533 Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome 270400