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
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.
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.