Combined Immunodeficiency
Gene: CD40
CD40 (CD40 molecule)
EnsemblGeneIds (GRCh38): ENSG00000101017
EnsemblGeneIds (GRCh37): ENSG00000101017
OMIM: 109535, Gene2Phenotype
CD40 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000101017
EnsemblGeneIds (GRCh37): ENSG00000101017
OMIM: 109535, Gene2Phenotype
CD40 is in 6 panels
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Immunodeficiency with hyper-IgM, type 3, MIM# 606843
- Tags
- OMIM
- 109535
- Clinvar variants
- Variants in CD40
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
21 Aug 2023, Gel status: 3
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: CD40.
8 Jan 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cd40 has been classified as Green List (High Evidence).
8 Jan 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cd40 has been classified as Green List (High Evidence).
8 Jan 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CD40 was added gene: CD40 was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list Mode of inheritance for gene: CD40 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CD40 were set to 11675497; 12915844 Phenotypes for gene: CD40 were set to Immunodeficiency with hyper-IgM, type 3, MIM# 606843 Review for gene: CD40 was set to GREEN