Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Mendeliome v0.1045 PPM1D Zornitza Stark Marked gene: PPM1D as ready
Mendeliome v0.1045 PPM1D Zornitza Stark Gene: ppm1d has been classified as Green List (High Evidence).
Mendeliome v0.1045 PPM1D Zornitza Stark Phenotypes for gene: PPM1D were changed from to Jansen de Vries syndrome, MIM #617450
Mendeliome v0.1044 PPM1D Zornitza Stark Publications for gene: PPM1D were set to
Mendeliome v0.1043 PPM1D Zornitza Stark Mode of inheritance for gene: PPM1D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1042 PPM1D Zornitza Stark reviewed gene: PPM1D: Rating: GREEN; Mode of pathogenicity: None; Publications: 28343630, 31916397, 30795918, 29758292; Phenotypes: Jansen de Vries syndrome, MIM #617450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.0 PPM1D Zornitza Stark gene: PPM1D was added
gene: PPM1D was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PPM1D was set to Unknown