Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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 |
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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 |