Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Genomic newborn screening: BabyScreen+ v0.1418 SPINK5 Seb Lunke Marked gene: SPINK5 as ready
Genomic newborn screening: BabyScreen+ v0.1418 SPINK5 Seb Lunke Gene: spink5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1418 SPINK5 Seb Lunke Phenotypes for gene: SPINK5 were changed from Netherton syndrome 1; Netherton syndrome to Netherton syndrome MIM# 256500
Genomic newborn screening: BabyScreen+ v0.1417 SPINK5 Seb Lunke Classified gene: SPINK5 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1417 SPINK5 Seb Lunke Gene: spink5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1416 SPINK5 Seb Lunke reviewed gene: SPINK5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Netherton syndrome MIM# 256500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.0 SPINK5 Zornitza Stark gene: SPINK5 was added
gene: SPINK5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPINK5 were set to Netherton syndrome 1; Netherton syndrome