Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Hydrops fetalis v0.20 | DHCR7 | Zornitza Stark Marked gene: DHCR7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hydrops fetalis v0.20 | DHCR7 | Zornitza Stark Gene: dhcr7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hydrops fetalis v0.20 | DHCR7 | Zornitza Stark Classified gene: DHCR7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hydrops fetalis v0.20 | DHCR7 | Zornitza Stark Gene: dhcr7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hydrops fetalis v0.19 | DHCR7 |
Zornitza Stark gene: DHCR7 was added gene: DHCR7 was added to Hydrops fetalis_VCGS. Sources: Expert list Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHCR7 were set to 14735596; 10215064; 9856557 Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome, MIM#270400 Review for gene: DHCR7 was set to GREEN Added comment: Nuchal oedema in 3/30 cases in a series, PMID 14735596; another case report 10215064; another family reported in 9856557. Rare manifestation of relatively common condition. Sources: Expert list |