Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Brain Calcification v0.18 USP18 Zornitza Stark Marked gene: USP18 as ready
Brain Calcification v0.18 USP18 Zornitza Stark Gene: usp18 has been classified as Green List (High Evidence).
Brain Calcification v0.18 USP18 Zornitza Stark Classified gene: USP18 as Green List (high evidence)
Brain Calcification v0.18 USP18 Zornitza Stark Gene: usp18 has been classified as Green List (High Evidence).
Brain Calcification v0.17 USP18 Zornitza Stark gene: USP18 was added
gene: USP18 was added to Brain Calcification. Sources: Expert list
Mode of inheritance for gene: USP18 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP18 were set to 31940699; 27325888
Phenotypes for gene: USP18 were set to Pseudo-TORCH syndrome 2, MIM# 617397
Review for gene: USP18 was set to GREEN
Added comment: Three unrelated families reported. Note cryptic 3' deletion identified in one.
Sources: Expert list