Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Genomic newborn screening: BabyScreen+ v0.1263 HTRA1 Zornitza Stark Marked gene: HTRA1 as ready
Genomic newborn screening: BabyScreen+ v0.1263 HTRA1 Zornitza Stark Gene: htra1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1263 HTRA1 Zornitza Stark Phenotypes for gene: HTRA1 were changed from CARASIL syndrome to CARASIL syndrome, MIM# 600142
Genomic newborn screening: BabyScreen+ v0.1262 HTRA1 Zornitza Stark Classified gene: HTRA1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1262 HTRA1 Zornitza Stark Gene: htra1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1261 HTRA1 Zornitza Stark reviewed gene: HTRA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: CARASIL syndrome, MIM# 600142; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.0 HTRA1 Zornitza Stark gene: HTRA1 was added
gene: HTRA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HTRA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HTRA1 were set to CARASIL syndrome