Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Prepair 1000+ v1.2046 PHF6 Zornitza Stark Marked gene: PHF6 as ready
Prepair 1000+ v1.2046 PHF6 Zornitza Stark Gene: phf6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2046 PHF6 Zornitza Stark Phenotypes for gene: PHF6 were changed from Borjeson-Forssman-Lehmann syndrome, 301900 (3) to Borjeson-Forssman-Lehmann syndrome, MIM# 301900
Prepair 1000+ v1.2045 PHF6 Zornitza Stark reviewed gene: PHF6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Borjeson-Forssman-Lehmann syndrome, MIM# 301900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.0 PHF6 Zornitza Stark gene: PHF6 was added
gene: PHF6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PHF6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PHF6 were set to Borjeson-Forssman-Lehmann syndrome, 301900 (3)