Activity

Filter

Cancel
Date Panel Item Activity
7 actions
BabyScreen+ newborn screening v0.74 ALS2 Zornitza Stark Marked gene: ALS2 as ready
BabyScreen+ newborn screening v0.74 ALS2 Zornitza Stark Gene: als2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.74 ALS2 Zornitza Stark Phenotypes for gene: ALS2 were changed from Amyotrophic lateral sclerosis to Infantile onset ascending spastic paralysis (MIM#607225); Juvenile amyotrophic lateral sclerosis 2 (MIM#205100); Juvenile primary lateral sclerosis (MIM#606353)
BabyScreen+ newborn screening v0.73 ALS2 Zornitza Stark Classified gene: ALS2 as Red List (low evidence)
BabyScreen+ newborn screening v0.73 ALS2 Zornitza Stark Gene: als2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.72 ALS2 Zornitza Stark reviewed gene: ALS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Infantile onset ascending spastic paralysis (MIM#607225), Juvenile amyotrophic lateral sclerosis 2 (MIM#205100), Juvenile primary lateral sclerosis (MIM#606353); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.0 ALS2 Zornitza Stark gene: ALS2 was added
gene: ALS2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALS2 were set to Amyotrophic lateral sclerosis