Activity

Filter

Cancel
Date Panel Item Activity
7 actions
BabyScreen+ newborn screening v0.753 PEX12 Zornitza Stark Marked gene: PEX12 as ready
BabyScreen+ newborn screening v0.753 PEX12 Zornitza Stark Gene: pex12 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.753 PEX12 Zornitza Stark Phenotypes for gene: PEX12 were changed from Zellweger syndrome to Peroxisome biogenesis disorder 3A (Zellweger) (MIM#614859)
BabyScreen+ newborn screening v0.752 PEX12 Zornitza Stark Classified gene: PEX12 as Red List (low evidence)
BabyScreen+ newborn screening v0.752 PEX12 Zornitza Stark Gene: pex12 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.719 PEX12 John Christodoulou reviewed gene: PEX12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.0 PEX12 Zornitza Stark gene: PEX12 was added
gene: PEX12 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX12 were set to Zellweger syndrome