Activity

Filter

Cancel
Date Panel Item Activity
16 actions
Mendeliome v0.2067 CFB Zornitza Stark Phenotypes for gene: CFB were changed from Complement factor B deficiency, MIM# 615561 to Complement factor B deficiency, MIM# 615561; {Hemolytic uremic syndrome, atypical, susceptibility to, 4} 612924
Mendeliome v0.2066 CFB Zornitza Stark Publications for gene: CFB were set to 24152280
Mendeliome v0.2065 CFB Zornitza Stark Mode of inheritance for gene: CFB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2064 CFB Zornitza Stark Classified gene: CFB as Green List (high evidence)
Mendeliome v0.2064 CFB Zornitza Stark Gene: cfb has been classified as Green List (High Evidence).
Mendeliome v0.2063 CFB Zornitza Stark changed review comment from: Single individual reported, supportive immunophenotyping data.; to: Single individual reported with bi-allelic variants and complement deficiency, supportive immunophenotyping data. Mono-allelic variants linked to susceptibility to aHUS.
Mendeliome v0.2063 CFB Zornitza Stark edited their review of gene: CFB: Changed rating: GREEN; Changed publications: 24152280, 17182750; Changed phenotypes: Complement factor B deficiency, MIM# 615561, {Hemolytic uremic syndrome, atypical, susceptibility to, 4} 612924; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2063 CFB Zornitza Stark Marked gene: CFB as ready
Mendeliome v0.2063 CFB Zornitza Stark Gene: cfb has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2063 CFB Zornitza Stark Phenotypes for gene: CFB were changed from to Complement factor B deficiency, MIM# 615561
Mendeliome v0.2062 CFB Zornitza Stark Publications for gene: CFB were set to
Mendeliome v0.2061 CFB Zornitza Stark Mode of inheritance for gene: CFB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2060 CFB Zornitza Stark Classified gene: CFB as Amber List (moderate evidence)
Mendeliome v0.2060 CFB Zornitza Stark Gene: cfb has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2059 CFB Zornitza Stark reviewed gene: CFB: Rating: AMBER; Mode of pathogenicity: None; Publications: 24152280; Phenotypes: Complement factor B deficiency, MIM# 615561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.0 CFB Zornitza Stark gene: CFB was added
gene: CFB was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CFB was set to Unknown