Activity

Filter

Cancel
Date Panel Item Activity
9 actions
Cerebellar and Pontocerebellar Hypoplasia v0.72 PUS3 Zornitza Stark Marked gene: PUS3 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.72 PUS3 Zornitza Stark Gene: pus3 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.72 PUS3 Zornitza Stark Phenotypes for gene: PUS3 were changed from to Mental retardation, autosomal recessive 55 (MIM#617051)
Cerebellar and Pontocerebellar Hypoplasia v0.71 PUS3 Zornitza Stark Publications for gene: PUS3 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.70 PUS3 Zornitza Stark Mode of inheritance for gene: PUS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.69 PUS3 Zornitza Stark Classified gene: PUS3 as Red List (low evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.69 PUS3 Zornitza Stark Gene: pus3 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.68 PUS3 Crystle Lee reviewed gene: PUS3: Rating: RED; Mode of pathogenicity: None; Publications: 27055666, 30308082, 30697592, 31444731; Phenotypes: Mental retardation, autosomal recessive 55 (MIM#617051); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.0 PUS3 Zornitza Stark gene: PUS3 was added
gene: PUS3 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PUS3 was set to Unknown