Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: CD40LG
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.
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).
Mode of inheritance for CD40LG was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
This gene has been classified as Green List (High Evidence).
CD40LG was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
Phenotypes for gene CD40LG were set to Immunodeficiency, X-linked, with hyper-IgM 308230
CD40LG was created by ellenmcdonagh
CD40LG was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list