Infantile enterocolitis & monogenic inflammatory bowel diseaseGene: RAG1
Comment on list classification: Appropriate phenotype for inclusion
Created: 13 Oct 2016, 8:51 p.m.
Comment on list classification: Multiple variants reported, and green on the SCID (Version 1.0) and Combined B and T cell defect (Version 1.0) gene panels. However unsure whether it should be included in this panel for these phenotypes.
Created: 12 Oct 2016, 4:27 p.m.
14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
This gene has been classified as Green List (High Evidence).
Phenotypes for RAG1 were set to Severe combined immunodeficiency, B cell-negative; Omenn syndrome;Combined cellular and humoral immune defects with granulomas;Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity
This gene has been classified as Amber List (Moderate Evidence).
RAG1 was created by ellenmcdonagh
RAG1 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list