Gastrointestinal epithelial barrier disorders
Gene: CD40LGComment on list classification: In addition to expert review green, there is evidence that a percentage of patients with known variants in this gene present with gastrointestinal phenotypes (27189378). It should be noted however, that this phenotype is displayed alongside a main phenotype - immunodeficiency.Created: 26 Jul 2018, 10:04 a.m.
Comment on mode of inheritance: Edited to X-linked recessive, due to information from OMIM.Created: 10 Oct 2016, 2:22 p.m.
Comment on list classification: Rated green by Neil Shah (GOSH),, and numerous Immunodeficiency, X-linked, with hyper-IgM cases reported with different variants in this gene.Created: 10 Oct 2016, 2:21 p.m.
Associated with phenotype in OMIM, not in G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel and Emory Genetics Laboratory Early Onset Inflammatory Bowel Disease: Sequencing Panel. Numerous variants reportedCreated: 5 Sep 2016, 6:48 a.m.
Gene: cd40lg has been classified as Green List (High Evidence).
Publications for gene: CD40LG were set to 27189378
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
Phenotypes for gene CD40LG were set to Early Onset Inflammatory Bowel Disease, Immunodeficiency, X-linked, with hyper-IgM 308230
CD40LG was added to Gastrointestinal epithelial barrier disorders panel. Sources: Emory Genetics Laboratory
CD40LG was created by Olivia Niblock