Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Mendeliome v1.2135 POU2AF1 Bryony Thompson Classified gene: POU2AF1 as Amber List (moderate evidence)
Mendeliome v1.2135 POU2AF1 Bryony Thompson Gene: pou2af1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2134 POU2AF1 Bryony Thompson reviewed gene: POU2AF1: Rating: AMBER; Mode of pathogenicity: None; Publications: 35603192, 33571536; Phenotypes: Agammaglobulinemia MONDO:0015977; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.110 POU2AF1 Zornitza Stark Marked gene: POU2AF1 as ready
Mendeliome v1.110 POU2AF1 Zornitza Stark Gene: pou2af1 has been classified as Red List (Low Evidence).
Mendeliome v1.110 POU2AF1 Zornitza Stark gene: POU2AF1 was added
gene: POU2AF1 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: POU2AF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POU2AF1 were set to 33571536
Phenotypes for gene: POU2AF1 were set to Agammaglobulinaemia, MONDO:0015977, POU2AF1-related
Review for gene: POU2AF1 was set to RED
Added comment: Single individual from consanguineous parents lacking immunoglobulins despite normal total B-cell numbers.
Sources: Expert Review