Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Congenital ophthalmoplegia v1.6 COLQ Zornitza Stark Tag treatable tag was added to gene: COLQ.
Tag clinical trial tag was added to gene: COLQ.
Congenital ophthalmoplegia v0.31 COLQ Zornitza Stark Marked gene: COLQ as ready
Congenital ophthalmoplegia v0.31 COLQ Zornitza Stark Gene: colq has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.31 COLQ Zornitza Stark Classified gene: COLQ as Green List (high evidence)
Congenital ophthalmoplegia v0.31 COLQ Zornitza Stark Gene: colq has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.30 COLQ Zornitza Stark gene: COLQ was added
gene: COLQ was added to Congenital ophthalmoplegia. Sources: Expert list
Mode of inheritance for gene: COLQ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COLQ were set to Myasthenic syndrome, congenital, 5, MIM# 603034
Review for gene: COLQ was set to GREEN
Added comment: Well established gene-disease association. Ophthalmoparesis is a feature.
Sources: Expert list