Activity

Filter

Cancel
Date Panel Item Activity
13 actions
Genomic newborn screening: BabyScreen+ v0.1688 EPS8 Zornitza Stark Tag deafness tag was added to gene: EPS8.
Genomic newborn screening: BabyScreen+ v0.951 EPS8L2 Zornitza Stark Marked gene: EPS8L2 as ready
Genomic newborn screening: BabyScreen+ v0.951 EPS8L2 Zornitza Stark Gene: eps8l2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.951 EPS8L2 Zornitza Stark Classified gene: EPS8L2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.951 EPS8L2 Zornitza Stark Gene: eps8l2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.950 EPS8L2 Zornitza Stark reviewed gene: EPS8L2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness autosomal recessive 106, MIM# 617637; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.950 EPS8 Zornitza Stark Marked gene: EPS8 as ready
Genomic newborn screening: BabyScreen+ v0.950 EPS8 Zornitza Stark Gene: eps8 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.950 EPS8 Zornitza Stark Phenotypes for gene: EPS8 were changed from deafness MIM#600205 to Autosomal recessive nonsyndromic hearing loss 102, MIM#600205, MONDO:0014428
Genomic newborn screening: BabyScreen+ v0.949 EPS8 Zornitza Stark edited their review of gene: EPS8: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.949 EPS8 Zornitza Stark reviewed gene: EPS8: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Autosomal recessive nonsyndromic hearing loss 102, MIM# MONDO:0014428; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.0 EPS8L2 Zornitza Stark gene: EPS8L2 was added
gene: EPS8L2 was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: EPS8L2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EPS8L2 were set to Deafness, MIM#617637
Genomic newborn screening: BabyScreen+ v0.0 EPS8 Zornitza Stark gene: EPS8 was added
gene: EPS8 was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: EPS8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EPS8 were set to deafness MIM#600205