Activity

Filter

Cancel
Date Panel Item Activity
15 actions
Primary immunodeficiency or monogenic inflammatory bowel disease v2.572 PMS2 Arina Puzriakova commented on gene: PMS2
Primary immunodeficiency or monogenic inflammatory bowel disease v2.571 PMS2 Arina Puzriakova Source Expert Review Red was added to PMS2.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.550 PMS2 Dmitrijs Rots reviewed gene: PMS2: Rating: RED; Mode of pathogenicity: None; Publications: 30013564; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 PMS2 Louise Daugherty Source IUIS Classification December 2019 was added to PMS2.
Mode of inheritance for gene PMS2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Recurrent infections, cafe-au-lait spots, lymphoma, colorectal carcinoma, brain tumors; Combined immunodeficiencies with associated or syndromic features for gene: PMS2
Publications for gene PMS2 were updated from 7661930; 15077197; 9488480; 10763829; 16507833 to 15077197; 32048120; 7661930; 9488480; 16507833; 10763829; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease PMS2 Louise Daugherty marked gene: PMS2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease PMS2 Louise Daugherty commented on gene: PMS2
Primary immunodeficiency or monogenic inflammatory bowel disease PMS2 Louise Daugherty commented on gene: PMS2
Primary immunodeficiency or monogenic inflammatory bowel disease PMS2 Sophie Hambleton reviewed gene: PMS2
Primary immunodeficiency or monogenic inflammatory bowel disease PMS2 Sarah Leigh classified PMS2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease PMS2 Louise Daugherty commented on PMS2
Primary immunodeficiency or monogenic inflammatory bowel disease PMS2 Louise Daugherty commented on PMS2
Primary immunodeficiency or monogenic inflammatory bowel disease PMS2 Louise Daugherty commented on PMS2
Primary immunodeficiency or monogenic inflammatory bowel disease PMS2 Louise Daugherty reviewed PMS2
Primary immunodeficiency or monogenic inflammatory bowel disease PMS2 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease PMS2 Louise Daugherty Added gene to panel