Activity

Filter

Cancel
Date Panel Item Activity
7 actions
BabyScreen+ newborn screening v0.138 ATP6V0A2 Zornitza Stark Marked gene: ATP6V0A2 as ready
BabyScreen+ newborn screening v0.138 ATP6V0A2 Zornitza Stark Gene: atp6v0a2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.138 ATP6V0A2 Zornitza Stark Phenotypes for gene: ATP6V0A2 were changed from Cutis laxa, autosomal recessive, type IIA to Cutis laxa, autosomal recessive, type IIA, MIM# 219200; Wrinkly skin syndrome, MIM#278250
BabyScreen+ newborn screening v0.137 ATP6V0A2 Zornitza Stark Classified gene: ATP6V0A2 as Red List (low evidence)
BabyScreen+ newborn screening v0.137 ATP6V0A2 Zornitza Stark Gene: atp6v0a2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.136 ATP6V0A2 Zornitza Stark reviewed gene: ATP6V0A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cutis laxa, autosomal recessive, type IIA, MIM# 219200, Wrinkly skin syndrome, MIM#278250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.0 ATP6V0A2 Zornitza Stark gene: ATP6V0A2 was added
gene: ATP6V0A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP6V0A2 were set to Cutis laxa, autosomal recessive, type IIA