Gastrointestinal epithelial barrier disordersGene: RAG1
Comment on list classification: Expert review is green for this gene and variants in this gene appear to be linked to Omenn syndrome, one of the symptoms of which is diarrhea, as well as immunodeficiency.
Created: 26 Jul 2018, 11:03 a.m.
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.
Mode of inheritance for gene: RAG1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: rag1 has been classified as Green List (High Evidence).
Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018
RAG1 was added to Gastrointestinal epithelial barrier disorders panel. Sources: Expert list
RAG1 was created by Olivia Niblock