Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: CD40LGEnsemblGeneIds (GRCh38): ENSG00000102245
EnsemblGeneIds (GRCh37): ENSG00000102245
OMIM: 300386, Gene2Phenotype
CD40LG is in 6 panels
3 reviews
Neil shah (GOSH)
Ellen McDonagh (Genomics England Curator)
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.
Sarah Leigh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
- Phenotypes
-
- Immunodeficiency, X-linked, with hyper-IgM 308230
- OMIM
- 300386
- Clinvar variants
- Variants in CD40LG
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for CD40LG was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Sarah Leigh (Genomics England Curator)CD40LG was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene CD40LG were set to Immunodeficiency, X-linked, with hyper-IgM 308230
Created
Ellen McDonagh (Genomics England Curator)CD40LG was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)CD40LG was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list