Interstitial Lung Disease
Gene: CARD11EnsemblGeneIds (GRCh38): ENSG00000198286
EnsemblGeneIds (GRCh37): ENSG00000198286
OMIM: 607210, Gene2Phenotype
CARD11 is in 8 panels
1 review
Suzanna Lindsey-Temple (Liverpool Hospital)
PMID: 28628108 - 5 children (18mon to 16 year old) all had lung disease in the form of asthma, pneumonia and pneumonitis. There was no children with reported bronchiectasis and a single case of a 21 year old with bronchiectasis who also had pulmonary TB.
PMID: 28826773 - extended multigenerational family consisting of 5 members with recurrent lower respiratory tract infections since infancy, as well as manifesting severe atopy and autoimmune disorders who had loss-of-function missense variant with a dominant negative effect on wild-type CARD11. One individual was reported to have bilateral bronchiectasis at 18 years of age.Created: 6 Nov 2021, 10:44 p.m. | Last Modified: 6 Nov 2021, 10:44 p.m.
Panel Version: 0.183
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
HIES (Job syndrome); Bronchiectasis
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Immunodeficiency 11B with atopic dermatitis, MIM# 617638
- HIES (Job syndrome)
- Bronchiectasis
- OMIM
- 607210
- Clinvar variants
- Variants in CARD11
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: card11 has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CARD11 were changed from to Immunodeficiency 11B with atopic dermatitis, MIM# 617638; HIES (Job syndrome); Bronchiectasis
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CARD11 were set to
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: card11 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Suzanna Lindsey-Temple (Liverpool Hospital)gene: CARD11 was added gene: CARD11 was added to Interstitial Lung Disease. Sources: Expert list Mode of inheritance for gene: CARD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted