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  3. CD40LG
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Cataract

Gene: CD40LG

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

1 review

Lauren Akesson (Royal Melbourne Hospital)

Red List (low evidence)

Cataracts are not a typical feature of this condition (OMIM, Gene Reviews)
Created: 20 Mar 2020, 4:59 a.m. | Last Modified: 20 Mar 2020, 4:59 a.m.
Panel Version: 0.22

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

Phenotypes
Immunodeficiency with Hyper-IgM type 1

Created: 20 Mar 2020, 4:59 a.m.
Last Modified: 20 Mar 2020, 4:59 a.m.
Panel version: 0.22

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency with Hyper-IgM type 1
OMIM
300386
Clinvar variants
Variants in CD40LG
Penetrance
None
Panels with this gene

History Filter Activity

20 Mar 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cd40lg has been classified as Red List (Low Evidence).

20 Mar 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CD40LG were changed from to Immunodeficiency with Hyper-IgM type 1

20 Mar 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CD40LG was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

20 Mar 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cd40lg has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CD40LG was added gene: CD40LG was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CD40LG was set to Unknown