Activity

Filter

Cancel
Date Panel Item Activity
21 actions
Primary immunodeficiency or monogenic inflammatory bowel disease v2.527 CEBPE Arina Puzriakova Phenotypes for gene: CEBPE were changed from Specific granule deficiency, 245480; Specific granule deficiency 1; CCAAT/enhancer binding protein epsilon deficiency (CEBPE); Recurrent infection due to specific granule deficiency; neutrophil lactoferrin deficiency; Neutrophils with bilobed nuclei; Congenital defects of phagocyte number or function to Specific granule deficiency, OMIM:245480; CCAAT/enhancer binding protein epsilon deficiency (CEBPE); Recurrent infection due to specific granule deficiency; Neutrophil lactoferrin deficiency; Neutrophils with bilobed nuclei; Congenital defects of phagocyte number or function
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CEBPE Louise Daugherty commented on gene: CEBPE: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CEBPE Louise Daugherty commented on gene: CEBPE: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CEBPE Kimberly Gilmour reviewed gene: CEBPE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CEBPE Tracy Briggs reviewed gene: CEBPE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CEBPE Louise Daugherty Source NHS GMS was added to CEBPE.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CEBPE Louise Daugherty Source North West GLH was added to CEBPE.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CEBPE Louise Daugherty Source London North GLH was added to CEBPE.
Primary immunodeficiency or monogenic inflammatory bowel disease CEBPE Louise Daugherty edited their review of gene: CEBPE
Primary immunodeficiency or monogenic inflammatory bowel disease CEBPE Louise Daugherty marked gene: CEBPE as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CEBPE Louise Daugherty classified CEBPE as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease CEBPE Zornitza Stark reviewed gene: CEBPE
Primary immunodeficiency or monogenic inflammatory bowel disease CEBPE Louise Daugherty commented on gene: CEBPE
Primary immunodeficiency or monogenic inflammatory bowel disease CEBPE Sophie Hambleton reviewed gene: CEBPE
Primary immunodeficiency or monogenic inflammatory bowel disease CEBPE Louise Daugherty commented on gene: CEBPE
Primary immunodeficiency or monogenic inflammatory bowel disease CEBPE Louise Daugherty commented on CEBPE
Primary immunodeficiency or monogenic inflammatory bowel disease CEBPE Louise Daugherty commented on CEBPE
Primary immunodeficiency or monogenic inflammatory bowel disease CEBPE Louise Daugherty commented on CEBPE
Primary immunodeficiency or monogenic inflammatory bowel disease CEBPE Louise Daugherty reviewed CEBPE
Primary immunodeficiency or monogenic inflammatory bowel disease CEBPE Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease CEBPE Louise Daugherty Added gene to panel