Activity

Filter

Cancel
Date Panel Item Activity
1 actions
Ataxia and cerebellar anomalies - narrow panel v0.5 POMK Ellen McDonagh gene: POMK was added
gene: POMK was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMK were set to 24925318
Phenotypes for gene: POMK were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 615249