Activity

Filter

Cancel
Date Panel Item Activity
9 actions
Mendeliome v1.1456 PUS3 Zornitza Stark Phenotypes for gene: PUS3 were changed from Mental retardation, autosomal recessive 55, MIM# 617051 to Neurodevelopmental disorder with microcephaly and gray sclerae, MIM# 617051
Mendeliome v1.1455 PUS3 Zornitza Stark edited their review of gene: PUS3: Changed phenotypes: Neurodevelopmental disorder with microcephaly and gray sclerae, MIM# 617051
Mendeliome v0.2231 PUS3 Zornitza Stark Marked gene: PUS3 as ready
Mendeliome v0.2231 PUS3 Zornitza Stark Gene: pus3 has been classified as Green List (High Evidence).
Mendeliome v0.2231 PUS3 Zornitza Stark Phenotypes for gene: PUS3 were changed from to Mental retardation, autosomal recessive 55, MIM# 617051
Mendeliome v0.2230 PUS3 Zornitza Stark Publications for gene: PUS3 were set to
Mendeliome v0.2229 PUS3 Zornitza Stark Mode of inheritance for gene: PUS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.645 PUS3 Zornitza Stark reviewed gene: PUS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30308082, 28454995, 27055666, 30697592, 31444731; Phenotypes: Mental retardation, autosomal recessive 55, MIM# 617051; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.0 PUS3 Zornitza Stark gene: PUS3 was added
gene: PUS3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PUS3 was set to Unknown