Gastrointestinal epithelial barrier disorders
Gene: CD40LGEnsemblGeneIds (GRCh38): ENSG00000102245
EnsemblGeneIds (GRCh37): ENSG00000102245
OMIM: 300386, Gene2Phenotype
CD40LG is in 6 panels
4 reviews
Olivia Niblock (Genomics England Curator)
Comment 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.
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
- Phenotypes
-
- Early Onset Inflammatory Bowel Disease
- Immunodeficiency, X-linked, with hyper-IgM 308230
- OMIM
- 300386
- Clinvar variants
- Variants in CD40LG
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Olivia Niblock (Genomics England Curator)Gene: cd40lg has been classified as Green List (High Evidence).
Set publications
Olivia Niblock (Genomics England Curator)Publications for gene: CD40LG were set to 27189378
Panel promoted to version 1.0
Olivia Niblock (Genomics England Curator)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
Set penetrance
Olivia Niblock (Genomics England Curator)Phenotypes for gene CD40LG were set to Early Onset Inflammatory Bowel Disease, Immunodeficiency, X-linked, with hyper-IgM 308230
Added New Source
Olivia Niblock (Genomics England Curator)CD40LG was added to Gastrointestinal epithelial barrier disorders panel. Sources: Emory Genetics Laboratory
Created
Olivia Niblock (Genomics England Curator)CD40LG was created by Olivia Niblock