Combined Immunodeficiency
Gene: CARD11

CARD11 (caspase recruitment domain family member 11)
EnsemblGeneIds (GRCh38): ENSG00000198286
EnsemblGeneIds (GRCh37): ENSG00000198286
OMIM: 607210, Gene2Phenotype
CARD11 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least two individuals with bi-allelic, and four with mono-allelic variants, animal model.
Created: 4 Apr 2020, 3:34 a.m. | Last Modified: 4 Apr 2020, 3:34 a.m.

Panel Version: 0.87

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 11A, autosomal recessive, MIM# 615206; Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM# 617638

Publications

Created: 4 Apr 2020, 3:34 a.m.
Last Modified: 4 Apr 2020, 3:34 a.m.
Panel version: 0.87

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

Phenotypes

Immunodeficiency 11A, autosomal recessive, MIM# 615206
Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM# 617638

OMIM

607210

Clinvar variants

Variants in CARD11

Penetrance

None

Publications

Panels with this gene