Activity

Filter

Cancel
Date Panel Item Activity
10 actions
Genomic newborn screening: BabyScreen+ v1.1 NIPAL4 Zornitza Stark Tag for review was removed from gene: NIPAL4.
Tag treatable tag was added to gene: NIPAL4.
Tag dermatological tag was added to gene: NIPAL4.
Genomic newborn screening: BabyScreen+ v0.1710 NIPAL4 Zornitza Stark Tag for review tag was added to gene: NIPAL4.
Genomic newborn screening: BabyScreen+ v0.1710 NIPAL4 Zornitza Stark commented on gene: NIPAL4: For review: treatment available?
Genomic newborn screening: BabyScreen+ v0.440 NIPAL4 Zornitza Stark Marked gene: NIPAL4 as ready
Genomic newborn screening: BabyScreen+ v0.440 NIPAL4 Zornitza Stark Gene: nipal4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.440 NIPAL4 Zornitza Stark Phenotypes for gene: NIPAL4 were changed from Ichthyosis, autosomal recessive to Ichthyosis, congenital, autosomal recessive 6, MIM# 612281
Genomic newborn screening: BabyScreen+ v0.439 NIPAL4 Zornitza Stark Publications for gene: NIPAL4 were set to
Genomic newborn screening: BabyScreen+ v0.438 NIPAL4 Zornitza Stark reviewed gene: NIPAL4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 6, MIM# 612281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NIPAL4 David Amor reviewed gene: NIPAL4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31532840; Phenotypes: Ichthyosis, congenital, autosomal recessive 6; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.0 NIPAL4 Zornitza Stark gene: NIPAL4 was added
gene: NIPAL4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NIPAL4 were set to Ichthyosis, autosomal recessive