Predominantly Antibody Deficiency
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

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

At least two individuals with bi-allelic, and four with mono-allelic variants, animal model.
Created: 28 Mar 2022, 4:23 a.m. | Last Modified: 28 Mar 2022, 4:23 a.m.

Panel Version: 0.12127

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

Variants in this GENE are reported as part of current diagnostic practice

Created: 28 Mar 2022, 4:23 a.m.
Last Modified: 28 Mar 2022, 4:23 a.m.
Panel version: Imported from Mendeliome panel version 0.12127

Details

Mode of Inheritance

Unknown

Sources

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

OMIM

607210

Clinvar variants

Variants in CARD11

Penetrance

None

Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CARD11 was added gene: CARD11 was added to Predominantly antibody deficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: CARD11 was set to Unknown

Predominantly Antibody Deficiency Gene: CARD11