Activity

Filter

Cancel
Date Panel Item Activity
1 actions
BabyScreen+ newborn screening v0.0 DTHD1 Zornitza Stark gene: DTHD1 was added
gene: DTHD1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DTHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DTHD1 were set to Leber congenital amaurosis with myopathy