Infantile enterocolitis & monogenic inflammatory bowel disease

Gene: CD40LG

Green List (high evidence)

CD40LG (CD40 ligand)
EnsemblGeneIds (GRCh38): ENSG00000102245
EnsemblGeneIds (GRCh37): ENSG00000102245
OMIM: 300386, Gene2Phenotype
CD40LG is in 7 panels

3 reviews

Neil shah (GOSH)

Green List (high evidence)

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 reported
Created: 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

14 Oct 2016, Gel status: 4

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.

10 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 Oct 2016, Gel status: 4

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

10 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

2 Sep 2016, Gel status: 3

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

2 Sep 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene CD40LG were set to Immunodeficiency, X-linked, with hyper-IgM 308230

10 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CD40LG was created by ellenmcdonagh

10 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CD40LG was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list