Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Skeletal Dysplasia_Fetal v0.40 CRTAP Zornitza Stark Marked gene: CRTAP as ready
Skeletal Dysplasia_Fetal v0.40 CRTAP Zornitza Stark Gene: crtap has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.40 CRTAP Zornitza Stark Phenotypes for gene: CRTAP were changed from to Osteogenesis imperfecta, type VII MIM#610682
Skeletal Dysplasia_Fetal v0.39 CRTAP Zornitza Stark Publications for gene: CRTAP were set to
Skeletal Dysplasia_Fetal v0.38 CRTAP Zornitza Stark Mode of inheritance for gene: CRTAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.37 CRTAP Zornitza Stark reviewed gene: CRTAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 21955071, 19846465, 17192541; Phenotypes: Osteogenesis imperfecta, type VII MIM#610682; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.0 CRTAP Zornitza Stark gene: CRTAP was added
gene: CRTAP was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CRTAP was set to Unknown