Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Genomic newborn screening: BabyScreen+ v0.1712 SCNN1B Zornitza Stark Tag treatable tag was added to gene: SCNN1B.
Tag endocrine tag was added to gene: SCNN1B.
Genomic newborn screening: BabyScreen+ v0.542 SCNN1B Seb Lunke Marked gene: SCNN1B as ready
Genomic newborn screening: BabyScreen+ v0.542 SCNN1B Seb Lunke Gene: scnn1b has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.542 SCNN1B Seb Lunke reviewed gene: SCNN1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudohypoaldosteronism, type I, MIM# 264350 AR, MIM#0009917; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.0 SCNN1B Zornitza Stark gene: SCNN1B was added
gene: SCNN1B was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: SCNN1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCNN1B were set to Pseudohypoaldosteronism, type I MIM# 264350