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  2. Newborns additional phenotypes panel 2
  3. CARD11
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Newborns additional phenotypes panel 2

Gene: CARD11

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanisms of pathogenicity are loss-of-function (LOF) and dominant-negative (DN).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.8
CARD11 curation results (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.5
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.8

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Immunodeficiency 11B with atopic dermatitis
OMIM
607210
Clinvar variants
Variants in CARD11
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to CARD11. Added phenotypes Immunodeficiency 11B with atopic dermatitis for gene: CARD11 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to CARD11. Added phenotypes Immunodeficiency 11B with atopic dermatitis for gene: CARD11 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Mafalda Gomes (Genomics England Curator)

gene: CARD11 was added gene: CARD11 was added to Newborns additional phenotypes panel 2. Sources: Expert Review Amber Mode of inheritance for gene: CARD11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CARD11 were set to Immunodeficiency 11B with atopic dermatitis