Severe multi-system atopic disease with high IgE
Gene: CARD11

CARD11 (caspase recruitment domain family member 11)
EnsemblGeneIds (GRCh38): ENSG00000198286
EnsemblGeneIds (GRCh37): ENSG00000198286
OMIM: 607210, Gene2Phenotype
CARD11 is in 4 panels

1 review

William Rae (University Hospital Southampton NHS Foundation Trust)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
multisystem atopic disease, eczema, raised IgE, low IgM, eosinophilia

Publications

PMID 28628108

Created: 27 Jun 2017, 12:33 p.m.

Panel version: 1.1

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green

Phenotypes

multisystem atopic disease, eczema, raised IgE, low IgM, eosinophilia
B-cell expansion with NFKB and T-cell anergy, OMIM:616452

OMIM

607210

Clinvar variants

Variants in CARD11

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

13 Jul 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: CARD11 were changed from multisystem atopic disease, eczema, raised IgE, low IgM, eosinophilia; B-cell expansion with NFKB and T-cell anergy 616452 AD to multisystem atopic disease, eczema, raised IgE, low IgM, eosinophilia; B-cell expansion with NFKB and T-cell anergy, OMIM:616452

15 Aug 2017, Gel status: 4