Renal ciliopathies

Gene: DHCR7

Green List (high evidence)

DHCR7 (7-dehydrocholesterol reductase)
EnsemblGeneIds (GRCh38): ENSG00000172893
EnsemblGeneIds (GRCh37): ENSG00000172893
OMIM: 602858, Gene2Phenotype
DHCR7 is in 29 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Red List (low evidence)

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

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