Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Genomic newborn screening: BabyScreen+ v0.458 NPHP4 Zornitza Stark Marked gene: NPHP4 as ready
Genomic newborn screening: BabyScreen+ v0.458 NPHP4 Zornitza Stark Gene: nphp4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.458 NPHP4 Zornitza Stark Phenotypes for gene: NPHP4 were changed from Nephronophthisis to Nephronophthisis 4, MIM# 606966 Senior-Loken syndrome 4, MIM# 606996
Genomic newborn screening: BabyScreen+ v0.457 NPHP4 Zornitza Stark Classified gene: NPHP4 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.457 NPHP4 Zornitza Stark Gene: nphp4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.456 NPHP4 Zornitza Stark reviewed gene: NPHP4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 4, MIM# 606966 Senior-Loken syndrome 4, MIM# 606996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NPHP4 David Amor reviewed gene: NPHP4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.0 NPHP4 Zornitza Stark gene: NPHP4 was added
gene: NPHP4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP4 were set to Nephronophthisis