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  3. CARD11
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Rare genetic inflammatory skin disorders

Gene: CARD11

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

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Immunodeficiency 11B with atopic dermatitis

Publications

Created: 12 Dec 2019, 3:08 p.m.
Last Modified: 12 Dec 2019, 3:08 p.m.
Panel version: 0.21

Catherine Snow (Genomics England)

Green List (high evidence)

Following discussion with the Genomics England clinical team it was agreed that Green genes associated severe multi-system atopic disease with high Ig should be included on this panel. Therefore added to panel as a Green gene.
Created: 2 Dec 2019, 3:48 p.m. | Last Modified: 2 Dec 2019, 3:48 p.m.
Panel Version: 0.17
Created: 2 Dec 2019, 3:48 p.m.
Last Modified: 2 Dec 2019, 3:48 p.m.
Panel version: 0.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Immunodeficiency 11B with atopic dermatitis, OMIM:617638
OMIM
607210
Clinvar variants
Variants in CARD11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: CARD11 were changed from Immunodeficiency 11B with atopic dermatitis to Immunodeficiency 11B with atopic dermatitis, OMIM:617638

12 Dec 2019, Gel status: 3

Set Phenotypes, Set publications

Catherine Snow (Genomics England)

Added phenotypes Immunodeficiency 11B with atopic dermatitis for gene: CARD11 Publications for gene CARD11 were changed from to 28628108

2 Dec 2019, Gel status: 3

Added New Source, Status Update

Catherine Snow (Genomics England)

Source Expert Review Green was added to CARD11. Rating Changed from Red List (low evidence) to Green List (high evidence)

2 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Catherine Snow (Genomics England)

gene: CARD11 was added gene: CARD11 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Mode of inheritance for gene: CARD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted