Research panel - Severe Paediatric Disorders
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

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CARD11; Recommended initial gene rating: Green List (high evidence); Phenotypes: B-cell expansion with NFKB and T-cell anergy, 616452 (3) | Immunodeficiency 11A, 615206 (3) | Immunodeficiency 11B with atopic dermatitis, 617638 (3); Mode of inheritance: Autosomal dominant | Autosomal recessive | Autosomal dominant
Created: 20 Feb 2020, 5:16 p.m. | Last Modified: 20 Feb 2020, 5:16 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:16 p.m.
Last Modified: 20 Feb 2020, 5:16 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

B-cell expansion with NFKB and T-cell anergy, 616452
Immunodeficiency 11A, 615206
Immunodeficiency 11B with atopic dermatitis, 617638

OMIM

607210

Clinvar variants

Variants in CARD11

Penetrance

None

Publications

30847515

Panels with this gene