Activity

Filter

Cancel
Date Panel Item Activity
4 actions
Additional findings_Paediatric v0.2 FKRP Zornitza Stark Added phenotypes Muscle-eye-brain disease for gene: FKRP
Additional findings_Paediatric v0.2 FKRP Zornitza Stark Added phenotypes Muscular dystrophy, limb girdle 2I for gene: FKRP
Additional findings_Paediatric v0.0 FKRP Zornitza Stark Added phenotypes Muscle-eye-brain disease for gene: FKRP
Additional findings_Paediatric v0.0 FKRP Zornitza Stark gene: FKRP was added
gene: FKRP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKRP were set to Muscular dystrophy, limb girdle 2I