Activity

Filter

Cancel
Date Panel Item Activity
7 actions
BabyScreen+ newborn screening v0.888 DNM2 Zornitza Stark Marked gene: DNM2 as ready
BabyScreen+ newborn screening v0.888 DNM2 Zornitza Stark Gene: dnm2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.888 DNM2 Zornitza Stark Phenotypes for gene: DNM2 were changed from Charcot-Marie-Tooth disease, axonal, type 2M; Myopathy, centronuclear to Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482 Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482
BabyScreen+ newborn screening v0.887 DNM2 Zornitza Stark Classified gene: DNM2 as Red List (low evidence)
BabyScreen+ newborn screening v0.887 DNM2 Zornitza Stark Gene: dnm2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.886 DNM2 Zornitza Stark reviewed gene: DNM2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482 Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.0 DNM2 Zornitza Stark gene: DNM2 was added
gene: DNM2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DNM2 were set to Charcot-Marie-Tooth disease, axonal, type 2M; Myopathy, centronuclear