Cardiomyopathies - including childhood onsetGene: DHCR7
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Source Expert Review Red was added to DHCR7. Source NHS GMS was added to DHCR7. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
gene: DHCR7 was added gene: DHCR7 was added to Cardiomyopathies - including childhood onset. Sources: London South GLH,Expert Review Amber Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHCR7 were set to 27604308 Phenotypes for gene: DHCR7 were set to Cataracts; Smith - Lemli - Opitz syndrome (Disorders of sterol biosynthesis); Disorders of sex development; IUGR and IGF abnormalities; Intellectual disability