Activity

Filter

Cancel
Date Panel Item Activity
12 actions
Genomic newborn screening: BabyScreen+ v1.41 CFH Zornitza Stark Marked gene: CFH as ready
Genomic newborn screening: BabyScreen+ v1.41 CFH Zornitza Stark Gene: cfh has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.41 CFH Zornitza Stark Phenotypes for gene: CFH were changed from Haemolytic uraemic syndrome to Complement factor H deficiency, MIM# 609814
Genomic newborn screening: BabyScreen+ v1.40 CFH Zornitza Stark Classified gene: CFH as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.40 CFH Zornitza Stark Gene: cfh has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.39 CFH Zornitza Stark Tag treatable tag was added to gene: CFH.
Tag immunological tag was added to gene: CFH.
Genomic newborn screening: BabyScreen+ v1.39 CFH Zornitza Stark reviewed gene: CFH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Complement factor H deficiency, MIM# 609814; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.0 CFHR5 Zornitza Stark gene: CFHR5 was added
gene: CFHR5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CFHR5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CFHR5 were set to Haemolytic uraemic syndrome
Genomic newborn screening: BabyScreen+ v0.0 CFHR4 Zornitza Stark gene: CFHR4 was added
gene: CFHR4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CFHR4 was set to Unknown
Phenotypes for gene: CFHR4 were set to Hemolytic-uremic syndrome, atypical, susceptibility to
Genomic newborn screening: BabyScreen+ v0.0 CFHR3 Zornitza Stark gene: CFHR3 was added
gene: CFHR3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CFHR3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFHR3 were set to Haemolytic uraemic syndrome
Genomic newborn screening: BabyScreen+ v0.0 CFHR1 Zornitza Stark gene: CFHR1 was added
gene: CFHR1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CFHR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFHR1 were set to Haemolytic uraemic syndrome
Genomic newborn screening: BabyScreen+ v0.0 CFH Zornitza Stark gene: CFH was added
gene: CFH was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CFH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFH were set to Haemolytic uraemic syndrome