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COVID-19 research

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 6 panels

4 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

This gene is associated with three distinct allelic disorders: autosomal recessive LOF (atypical SCID-like clinical phenotype); autosomal dominant (dominant negative) LOF (severe atopic disease with immunodeficiency); and autosomal dominant GOF (BENTA disease). Functional validation therefore very important.
Created: 19 Jun 2018, 7:49 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
immunodeficiency 11A; immunodeficiency 11B with atopic dermatitis; B cell expansion with NFKB and T cell anergy (BENTA)

Publications

Mode of pathogenicity
Other

Louise Daugherty (Genomics England Curator)

I don't know

Added publication referenced by IUIS december 2019 update
Created: 28 Feb 2020, 8:49 p.m. | Last Modified: 28 Feb 2020, 8:49 p.m.
Panel Version: 2.36
Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): CARD11 .PanelApp HGNC gene symbol check: CARD11 . IUIS Disease: CARD11 LOF . IUIS Inheritance: AD .T cells: Nl number, low Treg, poor activation and function, .B cells: Normal numbers, .IUIS Other affected cells: N/A. IUIS Associated features: Severe atopy, recurrent infections. IUIS Major category: Combined immunodeficiencies with associated or syndromic features. IUIS Subcategory: Hyper IgE Syndromes (HIES). // OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): CARD11 .PanelApp HGNC gene symbol check: CARD11 . IUIS Disease: CARD11 GOF . IUIS Inheritance: AD GOF .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Splenomegaly, lymphadenopathy, poor vaccine response. IUIS Major category: Predominantly Antibody Deficiencies. IUIS Subcategory: Isotype, Light Chain, or Functional Deficiencies with Generally Normal Numbers of B Cells. // OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): CARD11 .PanelApp HGNC gene symbol check: CARD11 . IUIS Disease: CARD11 deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: Normal, transitional B cell predominance , .IUIS Other affected cells: N/A. IUIS Associated features: Pneumocystis jirovecii pneumonia, bacterial and viral infections . IUIS Major category: Immunodeficiencies affecting cellular and humoral immunity. IUIS Subcategory: Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency
Created: 2 Jul 2018, 10:49 a.m.
Comment on list classification: Changed Amber to Green from external review comment and further publications to support gene-disease association
Created: 20 Jun 2018, 9:22 p.m.
Comment on phenotypes: Added phenotypes suggested from external expert review.
Created: 20 Jun 2018, 9:19 p.m.
Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Green
Created: 20 Jun 2018, 9:10 p.m.
Comment on mode of inheritance: changed MOI to reflect expert review in view of the phenotypes immunodeficiency phenotypes associated to CARD11
Created: 20 Jun 2018, 9:09 p.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 20 Apr 2018, 12:25 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: CARD11, PanelApp HGNC gene symbol check: CARD11, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Combined immunodeficiencies / Atypical Severe Combined Immunodeficiency (Atypical SCID) / Atypical Severe Combined Immunodeficiency (Atypical SCID); Combined immunodeficiencies / Combined immunodeficiency (CID) Combined immunodeficiency; Diseases of immune dysregulation / Autoimmune lymphoproliferative syndrome (ALPS) Autoimmune lymphoproliferative syndrome (ALPS)
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: CARD11, GRID_Gene_Symbol: CARD11, GRID_Transcript_ENS_Community submitted: ENST00000396946, GRID_Transcript_RefSeq: NM_032415.5, GRID_Transcript_ENS_used_on_Production: ENST00000396946
Created: 17 Apr 2018, 12:12 p.m.

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
Phenotypes
  • immunodeficiency 11B with atopic dermatitis (AD), 617638
  • CARD11 deficiency
  • Combined immunodeficiency
  • Autoimmune lymphoproliferative syndrome (ALPS)
  • Pneumocystis jirovecii pneumonia, bacterial and viral infections
  • Severe atopy, recurrent infections
  • B cell expansion with NFKB and T cell anergy (BENTA) (AD), 616452
  • Atypical Severe Combined Immunodeficiency (Atypical SCID)
  • Splenomegaly, lymphadenopathy, poor vaccine response
  • Immunodeficiencies affecting cellular and humoral immunity
  • Predominantly Antibody Deficiencies
  • Predominantly antibody deficiencies
  • Combined immunodeficiencies with associated or syndromic features
  • Immunodeficiency 11A, 615206 (AR)
OMIM
607210
Clinvar variants
Variants in CARD11
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: CARD11 was added gene: CARD11 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CARD11 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CARD11 were set to 25352053; 23374270; 29074947; 23129749; 23561803; 30170123; 28628108; 28826773 Phenotypes for gene: CARD11 were set to immunodeficiency 11B with atopic dermatitis (AD), 617638; CARD11 deficiency; Combined immunodeficiency; Autoimmune lymphoproliferative syndrome (ALPS); Pneumocystis jirovecii pneumonia, bacterial and viral infections; Severe atopy, recurrent infections; B cell expansion with NFKB and T cell anergy (BENTA) (AD), 616452; Atypical Severe Combined Immunodeficiency (Atypical SCID); Splenomegaly, lymphadenopathy, poor vaccine response; Immunodeficiencies affecting cellular and humoral immunity; Predominantly Antibody Deficiencies; Predominantly antibody deficiencies; Combined immunodeficiencies with associated or syndromic features; Immunodeficiency 11A, 615206 (AR) Mode of pathogenicity for gene: CARD11 was set to Other - please provide details in the comments