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Mackenzie's Mission_Reproductive Carrier Screening

Gene: CD40

Green List (high evidence)

CD40 (CD40 molecule)
EnsemblGeneIds (GRCh38): ENSG00000101017
EnsemblGeneIds (GRCh37): ENSG00000101017
OMIM: 109535, Gene2Phenotype
CD40 is in 6 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency with hyper-IgM, type 3, 606843 (3)
OMIM
109535
Clinvar variants
Variants in CD40
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: CD40 was added gene: CD40 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CD40 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CD40 were set to Immunodeficiency with hyper-IgM, type 3, 606843 (3)