Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: CARD11Comment 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
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
YES- this is covered on our targeted exomeCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
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
Added publication referenced by IUIS december 2019 updateCreated: 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 ImmunodeficiencyCreated: 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 associationCreated: 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 GreenCreated: 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 CARD11Created: 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: ENST00000396946Created: 17 Apr 2018, 12:12 p.m.
Publications
Gene: card11 has been classified as Green List (High Evidence).
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)
Publications for gene CARD11 were updated from 23374270; 23561803; 28628108; 28826773; 23129749; 25352053 to 25352053; 23374270; 29074947; 23561803; 23129749; 30170123; 28628108; 28826773
Source NHS GMS was added to CARD11.
Source North West GLH was added to CARD11.
Source London North GLH was added to CARD11.
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.
Gene: card11 has been classified as Green List (High Evidence).
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
All sources for gene: CARD11 were removed
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
IUIS Classification February 2018 was added to CARD11. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to CARD11. Panel: Primary immunodeficiency disorders
Gene: card11 has been classified as Green List (High Evidence).
Gene: card11 has been classified as Green List (High Evidence).
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
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
Publications for gene: CARD11 were set to 23374270; 23561803; 28628108; 28826773; 23129749; 25352053
Mode of pathogenicity for gene: CARD11 was changed to Other - please provide details in the comments
Mode of inheritance for gene: CARD11 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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)
Expert Review Amber was added to CARD11. Panel: Primary immunodeficiency disorders
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)
Phenotypes for gene CARD11 were set to Immunodeficiency 11/ CARD11 deficiency, Predominantly antibody deficiencies, Predominantly antibody deficiencies
CARD11 was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0
CARD11 was created by Louise Daugherty