Renal ciliopathiesGene: DHCR7
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
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
Important differential diagnosis of ciliopathy
Created: 25 Jan 2017, 2:15 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Smith-Lemli-Opitz syndrome 270400
Tag for-review tag was added to gene: DHCR7.
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