Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Mendeliome v0.3383 CUX2 Zornitza Stark Marked gene: CUX2 as ready
Mendeliome v0.3383 CUX2 Zornitza Stark Added comment: Comment when marking as ready: At least 10 individuals reported with same recurrent de novo missense variant.
Mendeliome v0.3383 CUX2 Zornitza Stark Gene: cux2 has been classified as Green List (High Evidence).
Mendeliome v0.3383 CUX2 Zornitza Stark Phenotypes for gene: CUX2 were changed from to Epileptic encephalopathy, early infantile, 67, MIM#618141
Mendeliome v0.3382 CUX2 Zornitza Stark Publications for gene: CUX2 were set to
Mendeliome v0.3381 CUX2 Zornitza Stark Mode of inheritance for gene: CUX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3377 CUX2 Elena Savva reviewed gene: CUX2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 2963073, 29795476; Phenotypes: Epileptic encephalopathy, early infantile, 67, 618141; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.0 CUX2 Zornitza Stark gene: CUX2 was added
gene: CUX2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CUX2 was set to Unknown