COVID-19 research

Gene: CARD11

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

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

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

• 23374270
• 23561803
• 28628108
• 28826773
• 23129749
• 25352053

Mode of pathogenicity
Other

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

• 30170123
• 29074947