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Primary immunodeficiency

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

5 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Created: 14 Oct 2020, 12:26 p.m. | Last Modified: 14 Oct 2020, 12:26 p.m.
Panel Version: 2.225
The following PubMed IDs were added to entity CARD11: 23561803;23374270;26289640. These publications have been associated with OMIM phenotype MIM#615206, which is listed for this entity, by the immunodeficiencies subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.
Created: 13 Oct 2020, 9:36 a.m. | Last Modified: 13 Oct 2020, 9:36 a.m.
Panel Version: 2.208

Publications

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
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • Victorian Clinical Genetics Services
  • GRID V2.0
  • ESID Registry 20171117
  • IUIS Classification February 2018
Phenotypes
  • Immunodeficiency 11A, 615206 (AR)
  • CARD11 deficiency
  • Predominantly antibody deficiencies
  • Atypical Severe Combined Immunodeficiency (Atypical SCID)
  • Combined immunodeficiency
  • Autoimmune lymphoproliferative syndrome (ALPS)
  • B cell expansion with NFKB and T cell anergy (BENTA) (AD), 616452
  • immunodeficiency 11B with atopic dermatitis (AD), 617638
  • Severe atopy, recurrent infections
  • Combined immunodeficiencies with associated or syndromic features
  • Splenomegaly, lymphadenopathy, poor vaccine response
  • Predominantly Antibody Deficiencies
  • Pneumocystis jirovecii pneumonia, bacterial and viral infections
  • Immunodeficiencies affecting cellular and humoral immunity
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

14 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: card11 has been classified as Green List (High Evidence).

13 Oct 2020, Gel status: 1

Added New Source, Set publications, Status Update

Eleanor Williams (Genomics England Curator)

Source Other was added to CARD11. Publications for gene CARD11 were updated from 25352053; 23374270; 29074947; 23561803; 23129749; 30170123; 28628108; 28826773 to 29074947; 30170123; 28628108; 23129749; 25352053; 23374270; 23561803; 26289640; 28826773 Rating Changed from Green List (high evidence) to Red List (low evidence)

28 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene CARD11 were updated from 23374270; 23561803; 28628108; 28826773; 23129749; 25352053 to 25352053; 23374270; 29074947; 23561803; 23129749; 30170123; 28628108; 28826773

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CARD11.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to CARD11.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to CARD11.

12 Jul 2018, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

1 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: card11 has been classified as Green List (High Evidence).

1 Jul 2018, Gel status: 1

Added New Source, Added New Source, Added New Source, Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to CARD11. Panel: Primary immunodeficiency disorders ESID Registry 20171117 was added to CARD11. Panel: Primary immunodeficiency disorders GRID V2.0 was added to CARD11. Panel: Primary immunodeficiency disorders Victorian Clinical Genetics Services was added to CARD11. Panel: Primary immunodeficiency disorders

1 Jul 2018, Gel status: 0

Clear Sources

Louise Daugherty (Genomics England Curator)

All sources for gene: CARD11 were removed

1 Jul 2018, Gel status: 4

Removed Source, Removed Source, Removed Source, Removed Source, Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

Source IUIS Classification February 2018 was removed from CARD11. Panel: Primary immunodeficiency disorders Source ESID Registry 20171117 was removed from CARD11. Panel: Primary immunodeficiency disorders Source GRID V2.0 was removed from CARD11. Panel: Primary immunodeficiency disorders Source Victorian Clinical Genetics Services was removed from CARD11. Panel: Primary immunodeficiency disorders Other was added to CARD11. Panel: Primary immunodeficiency disorders Phenotypes for gene CARD11 were set to Immunodeficiency 11A, 615206 (AR), CARD11 deficiency, Predominantly antibody deficiencies, Atypical Severe Combined Immunodeficiency (Atypical SCID), Combined immunodeficiency, Autoimmune lymphoproliferative syndrome (ALPS), B cell expansion with NFKB and T cell anergy (BENTA) (AD), 616452, immunodeficiency 11B with atopic dermatitis (AD), 617638, Severe atopy, recurrent infections, Combined immunodeficiencies with associated or syndromic features, Splenomegaly, lymphadenopathy, poor vaccine response, Predominantly Antibody Deficiencies, Pneumocystis jirovecii pneumonia, bacterial and viral infections, Immunodeficiencies affecting cellular and humoral immunity

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to CARD11. Panel: Primary immunodeficiency disorders

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to CARD11. Panel: Primary immunodeficiency disorders

20 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: card11 has been classified as Green List (High Evidence).

20 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: card11 has been classified as Green List (High Evidence).

20 Jun 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CARD11 were set to Immunodeficiency 11A, 615206 (AR); CARD11 deficiency; Predominantly antibody deficiencies; Atypical Severe Combined Immunodeficiency (Atypical SCID); Combined immunodeficiency; Autoimmune lymphoproliferative syndrome (ALPS); B cell expansion with NFKB and T cell anergy (BENTA) (AD), 616452; immunodeficiency 11B with atopic dermatitis (AD), 617638

20 Jun 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CARD11 were set to Immunodeficiency 11A, 615206 (AR); CARD11 deficiency; Predominantly antibody deficiencies; Atypical Severe Combined Immunodeficiency (Atypical SCID); Combined immunodeficiency; Autoimmune lymphoproliferative syndrome (ALPS); B cell expansion with NFKB and T cell anergy (BENTA), 616452; immunodeficiency 11B with atopic dermatitis (AD), 617638

20 Jun 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CARD11 were set to 23374270; 23561803; 28628108; 28826773; 23129749; 25352053

20 Jun 2018, Gel status: 2

Set mode of pathogenicity

Louise Daugherty (Genomics England Curator)

Mode of pathogenicity for gene: CARD11 was changed to Other - please provide details in the comments

20 Jun 2018, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: CARD11 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Apr 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for CARD11 were set to Immunodeficiency 11/ CARD11 deficiency; Predominantly antibody deficiencies; Atypical Severe Combined Immunodeficiency (Atypical SCID); Combined immunodeficiency; Autoimmune lymphoproliferative syndrome (ALPS)

20 Apr 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Expert Review Amber was added to CARD11. Panel: Primary immunodeficiency disorders

17 Apr 2018, Gel status: 1

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

ESID Registry 20171117 was added to CARD11. Panel: Primary immunodeficiency disorders Phenotypes for gene CARD11 were set to Immunodeficiency 11/ CARD11 deficiency, Predominantly antibody deficiencies, Predominantly antibody deficiencies, Atypical Severe Combined Immunodeficiency (Atypical SCID), Combined immunodeficiency, Autoimmune lymphoproliferative syndrome (ALPS)

17 Apr 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene CARD11 were set to Immunodeficiency 11/ CARD11 deficiency, Predominantly antibody deficiencies, Predominantly antibody deficiencies

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

CARD11 was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

CARD11 was created by Louise Daugherty