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

2 reviews

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

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