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This Panel is marked as Internal

Newborns additional phenotypes panel 1
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

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is gain-of-function (GOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.29

CARD11 curation results (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.26

There are 2 AD phenotypes with different MOPs associated:
B-cell expansion with NFKB and T-cell anergy (GOF) & Immunodeficiency 11B with atopic dermatitis (LOF & DN).
Because this means that CARD11 will follow LOF prioritisation in a dominant manner due to Immunodeficiency 11B with atopic dermatitis (LOF & DN) phenotype anyway, these 2 entities have been merged.
Priority categories are 2PQ for both.
Created: 15 May 2023, 2:55 p.m. | Last Modified: 15 May 2023, 2:55 p.m.

Panel Version: 0.11

Created: 15 May 2023, 2:55 p.m.
Last Modified: 15 May 2023, 2:55 p.m.
Panel version: 0.29

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Amber

Phenotypes

B-cell expansion with NFKB and T-cell anergy

OMIM

Clinvar variants

Variants in CARD11

Penetrance

None

Mode of Pathogenicity

Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

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 B-cell expansion with NFKB and T-cell anergy 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 B-cell expansion with NFKB and T-cell anergy for gene: CARD11 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: CARD11 were changed from B-cell expansion with NFKB and T-cell anergy; Immunodeficiency 11B with atopic dermatitis to B-cell expansion with NFKB and T-cell anergy

31 May 2023, Gel status: 2

Added New Source, Set mode of pathogenicity, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to CARD11. Mode of pathogenicity for gene CARD11 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes B-cell expansion with NFKB and T-cell anergy for gene: CARD11 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

15 May 2023, Gel status: 3

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. Sources: Expert Review Green Mode of inheritance for gene: CARD11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CARD11 were set to B-cell expansion with NFKB and T-cell anergy; Immunodeficiency 11B with atopic dermatitis