Activity

Filter

Cancel
Date Panel Item Activity
10 actions
Cerebellar and Pontocerebellar Hypoplasia v0.63 DDX3X Zornitza Stark Marked gene: DDX3X as ready
Cerebellar and Pontocerebellar Hypoplasia v0.63 DDX3X Zornitza Stark Gene: ddx3x has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.63 DDX3X Zornitza Stark Phenotypes for gene: DDX3X were changed from to Mental retardation, X-linked 102, MIM# 300958
Cerebellar and Pontocerebellar Hypoplasia v0.62 DDX3X Zornitza Stark Publications for gene: DDX3X were set to
Cerebellar and Pontocerebellar Hypoplasia v0.61 DDX3X Zornitza Stark Mode of inheritance for gene: DDX3X was changed from Unknown to Other
Cerebellar and Pontocerebellar Hypoplasia v0.60 DDX3X Zornitza Stark Classified gene: DDX3X as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.60 DDX3X Zornitza Stark Gene: ddx3x has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.59 DDX3X Zornitza Stark reviewed gene: DDX3X: Rating: AMBER; Mode of pathogenicity: None; Publications: 30936465; Phenotypes: Mental retardation, X-linked 102, MIM# 300958; Mode of inheritance: Other
Cerebellar and Pontocerebellar Hypoplasia v0.53 DDX3X Elena Savva reviewed gene: DDX3X: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 26235985, 30936465; Phenotypes: Mental retardation, X-linked 102 300958; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cerebellar and Pontocerebellar Hypoplasia v0.0 DDX3X Zornitza Stark gene: DDX3X was added
gene: DDX3X was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DDX3X was set to Unknown