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Mackenzie's Mission_Reproductive Carrier Screening

Gene: CD40LG

Green List (high evidence)

CD40LG (CD40 ligand)
EnsemblGeneIds (GRCh38): ENSG00000102245
EnsemblGeneIds (GRCh37): ENSG00000102245
OMIM: 300386, Gene2Phenotype
CD40LG is in 10 panels

0 reviews

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency, X-linked, with hyper-IgM, 308230 (3)
OMIM
300386
Clinvar variants
Variants in CD40LG
Penetrance
None
Panels with this gene

History Filter Activity

19 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CD40LG was added gene: CD40LG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CD40LG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CD40LG were set to Immunodeficiency, X-linked, with hyper-IgM, 308230 (3)