Newborns main panel
Gene: CD40LG

CD40LG (CD40 ligand)
EnsemblGeneIds (GRCh38): ENSG00000102245
EnsemblGeneIds (GRCh37): ENSG00000102245
OMIM: 300386, Gene2Phenotype
CD40LG is in 6 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

https://search.clinicalgenome.org/kb/genes/HGNC:11935
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.134

MOI reviewed by clinical team. Mafalda Gomes comment: Typically, heterozygous females are asymptomatic but on immunologic testing have been shown to have reduced expression of CD40L on activation of CD4+ T lymphocytes. Those females with more dramatic reduction in circulating lymphocytes with CD40L due to skewed X-chromosome inactivation can have a presentation similar to HIGM1 or common variable immunodeficiency [Hollenbaugh et al 1994, de Saint Basile et al 1999, Lobo et al 2002].
Created: 10 Mar 2023, 10:37 a.m. | Last Modified: 10 Mar 2023, 10:37 a.m.

Panel Version: 0.40

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
X-linked immunodeficiency with hyper-IgM type 1

Created: 10 Mar 2023, 10:37 a.m.
Last Modified: 10 Mar 2023, 10:37 a.m.
Panel version: 0.137

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Green

Phenotypes

X-linked immunodeficiency with hyper-IgM type 1

OMIM

300386

Clinvar variants

Variants in CD40LG

Penetrance

None

Panels with this gene