Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Fetal anomalies v0.867 DHCR7 Zornitza Stark Marked gene: DHCR7 as ready
Fetal anomalies v0.867 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Green List (High Evidence).
Fetal anomalies v0.867 DHCR7 Zornitza Stark Phenotypes for gene: DHCR7 were changed from SMITH-LEMLI-OPITZ SYNDROME to Smith-Lemli-Opitz syndrome, MIM# 270400
Fetal anomalies v0.866 DHCR7 Zornitza Stark Publications for gene: DHCR7 were set to 31840946
Fetal anomalies v0.865 DHCR7 Zornitza Stark changed review comment from: Not a ciliopathy, but relatively common condition with phenotypic overlap.
Sources: Expert list; to: Well established gene-disease association, multiple congenital anomalies.

Sources: Expert list
Fetal anomalies v0.0 DHCR7 Zornitza Stark gene: DHCR7 was added
gene: DHCR7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHCR7 were set to 31840946
Phenotypes for gene: DHCR7 were set to SMITH-LEMLI-OPITZ SYNDROME