Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Mendeliome v0.1143 CUX1 Zornitza Stark Marked gene: CUX1 as ready
Mendeliome v0.1143 CUX1 Zornitza Stark Gene: cux1 has been classified as Green List (High Evidence).
Mendeliome v0.1143 CUX1 Zornitza Stark Classified gene: CUX1 as Green List (high evidence)
Mendeliome v0.1143 CUX1 Zornitza Stark Gene: cux1 has been classified as Green List (High Evidence).
Mendeliome v0.1142 CUX1 Zornitza Stark gene: CUX1 was added
gene: CUX1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: CUX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CUX1 were set to 25059644; 20510857; 30014507
Phenotypes for gene: CUX1 were set to Global developmental delay with or without impaired intellectual development, 618330
Review for gene: CUX1 was set to GREEN
gene: CUX1 was marked as current diagnostic
Added comment: Nine individuals from 7 families reported. Three individuals had normal intelligence at school age despite significant early developmental delay.
Sources: Expert list