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Newborns main panel

Gene: CD40

Green List (high evidence)
CD40 (CD40 molecule)
EnsemblGeneIds (GRCh38): ENSG00000101017
EnsemblGeneIds (GRCh37): ENSG00000101017
OMIM: 109535, Gene2Phenotype
CD40 is in 4 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
clinical validity - 1 case - PMID: 17502893 Three male and three female patients from three families - PMID: 29884852. References 16 cases PMID: 25511220
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Immunodeficiency with hyper-IgM, type 3
OMIM
109535
Clinvar variants
Variants in CD40
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Immunodeficiency with hyper-IgM, type 3 for gene: CD40

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Immunodeficiency with hyper-IgM, type 3 for gene: CD40

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Immunodeficiency with hyper-IgM, type 3 for gene: CD40

15 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to CD40. Added phenotypes Immunodeficiency with hyper-IgM, type 3 for gene: CD40 Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to CD40. Added phenotypes Immunodeficiency with hyper-IgM, type 3 for gene: CD40 Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Immunodeficiency with hyper-IgM, type 3 for gene: CD40

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: CD40 was added gene: CD40 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: CD40 was set to BIALLELIC, autosomal or pseudoautosomal