Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Mendeliome v0.13924 CYP2R1 Ain Roesley Marked gene: CYP2R1 as ready
Mendeliome v0.13924 CYP2R1 Ain Roesley Gene: cyp2r1 has been classified as Green List (High Evidence).
Mendeliome v0.13924 CYP2R1 Ain Roesley Publications for gene: CYP2R1 were set to 15128933; 28548312
Mendeliome v0.13923 CYP2R1 Ain Roesley Phenotypes for gene: CYP2R1 were changed from to Rickets due to defect in vitamin D 25-hydroxylation deficiency MIM#600081
Mendeliome v0.13923 CYP2R1 Ain Roesley Publications for gene: CYP2R1 were set to
Mendeliome v0.13923 CYP2R1 Ain Roesley Mode of inheritance for gene: CYP2R1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13922 CYP2R1 Ain Roesley reviewed gene: CYP2R1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15128933, 28548312; Phenotypes: Rickets due to defect in vitamin D 25-hydroxylation deficiency MIM#600081; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.0 CYP2R1 Zornitza Stark gene: CYP2R1 was added
gene: CYP2R1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CYP2R1 was set to Unknown