Activity

Filter

Cancel
Date Panel Item Activity
3 actions
Cataract v0.172 DYRK1A Zornitza Stark Marked gene: DYRK1A as ready
Cataract v0.172 DYRK1A Zornitza Stark Gene: dyrk1a has been classified as Red List (Low Evidence).
Cataract v0.172 DYRK1A Seb Lunke gene: DYRK1A was added
gene: DYRK1A was added to Cataract. Sources: Literature
Mode of inheritance for gene: DYRK1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DYRK1A were set to 28053047; 25944381
Phenotypes for gene: DYRK1A were set to congenital cataracts
Review for gene: DYRK1A was set to RED
Added comment: Really only one patient where cataract has been attributed directly to DYRK1A variant, 13 others with DYRK1A variants did not have cataracts (28053047). Second mention of cataract the gene was part of a large multi-gene deletion, and again other patients with DYRK1A (28053047) variants did not have cataract. Insufficient evidence.
Sources: Literature