Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Mendeliome v0.7006 PORCN Zornitza Stark Marked gene: PORCN as ready
Mendeliome v0.7006 PORCN Zornitza Stark Gene: porcn has been classified as Green List (High Evidence).
Mendeliome v0.7006 PORCN Zornitza Stark Phenotypes for gene: PORCN were changed from to Focal dermal hypoplasia, MIM# 305600
Mendeliome v0.7005 PORCN Zornitza Stark Mode of inheritance for gene: PORCN was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.7004 PORCN Zornitza Stark reviewed gene: PORCN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Focal dermal hypoplasia, MIM# 305600; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.0 PORCN Zornitza Stark gene: PORCN was added
gene: PORCN was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PORCN was set to Unknown