Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Skeletal dysplasia v0.305 RMRP Zornitza Stark Marked gene: RMRP as ready
Skeletal dysplasia v0.305 RMRP Zornitza Stark Gene: rmrp has been classified as Green List (High Evidence).
Skeletal dysplasia v0.305 RMRP Zornitza Stark Publications for gene: RMRP were set to
Skeletal dysplasia v0.304 RMRP Zornitza Stark Tag non-coding gene tag was added to gene: RMRP.
Skeletal dysplasia v0.24 RMRP Tiong Tan Added phenotypes Cartilage-hair hypoplasia 250250; Metaphyseal dysplasia without hypotrichosis 250460; Anauxetic dysplasia 607095 for gene: RMRP
Skeletal dysplasia v0.24 RMRP Tiong Tan Added phenotypes Cartilage-hair hypoplasia 250250; Metaphyseal dysplasia without hypotrichosis 250460; Anauxetic dysplasia 607095 for gene: RMRP
Skeletal dysplasia v0.23 RMRP Tiong Tan Source Victorian Clinical Genetics Services was added to RMRP.
Added phenotypes Metaphyseal dysplasia without hypotrichosis 250460; Cartilage-hair hypoplasia 250250; Anauxetic dysplasia 607095 for gene: RMRP
Skeletal dysplasia v0.0 RMRP Zornitza Stark gene: RMRP was added
gene: RMRP was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RMRP were set to Metaphyseal dysplasia without hypotrichosis 250460; Anauxetic dysplasia 607095; Cartilage-hair hypoplasia 250250