Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Choanal atresia v0.8 FAM20C Zornitza Stark Marked gene: FAM20C as ready
Choanal atresia v0.8 FAM20C Zornitza Stark Gene: fam20c has been classified as Green List (High Evidence).
Choanal atresia v0.8 FAM20C Zornitza Stark Phenotypes for gene: FAM20C were changed from Raine syndrome 259775 to Raine syndrome, MIM# 259775; MONDO:0009821
Choanal atresia v0.7 FAM20C Zornitza Stark Publications for gene: FAM20C were set to 25974638
Choanal atresia v0.6 FAM20C Zornitza Stark reviewed gene: FAM20C: Rating: GREEN; Mode of pathogenicity: None; Publications: 19250384, 32299476, 20825432, 33676444, 32833257; Phenotypes: Raine syndrome, MIM# 259775, MONDO:0009821; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Choanal atresia v0.1 FAM20C Zornitza Stark Source Genomics England PanelApp was added to FAM20C.
Added phenotypes Raine syndrome 259775 for gene: FAM20C
Choanal atresia v0.0 FAM20C Zornitza Stark gene: FAM20C was added
gene: FAM20C was added to Choanal atresia. Sources: Expert Review Green,Literature,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM20C were set to 25974638
Phenotypes for gene: FAM20C were set to Raine syndrome 259775