Genes in panel
STRs in panel
Prev Next

Primary immunodeficiency

Gene: CARD14

Green List (high evidence)

CARD14 (caspase recruitment domain family member 14)
EnsemblGeneIds (GRCh38): ENSG00000141527
EnsemblGeneIds (GRCh37): ENSG00000141527
OMIM: 607211, Gene2Phenotype
CARD14 is in 11 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: 2.226
The following PubMed IDs were added to entity CARD14: 22521418. These publications have been associated with OMIM phenotype MIM#602723, which is listed for this entity, by the autoinflammation 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)

I don't know

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Psoriasis ?relevant phenotype (also some evidence of presence in controls - is it useful clinically?
Created: 26 Sep 2019, 3:50 p.m. | Last Modified: 26 Sep 2019, 3:50 p.m.
Panel Version: 1.130
Comment on list classification: Changed rating from Amber to Green. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June (North West GLH) and 6th September (LNGLH). The Specialist Test Group all agreed that there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 4:44 p.m. | Last Modified: 17 Sep 2019, 4:44 p.m.
Panel Version: 1.95
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
Review suggest from Tracy Briggs on behalf of North West GLH notes that Somatic mutations cause Ras-associated autoimmune leukoproliferative disorder (RALD)
Created: 12 Sep 2019, 3 p.m. | Last Modified: 12 Sep 2019, 3 p.m.
Panel Version: 1.55
Comment on publications: Added publications 30248356; 29980436 suggested by Kimberly Gilmour (London North GLH) on behalf of The Specialist Test Group to support inclusion of this gene on the panel to support Green review. This gene needs discussing with The Immunology Specialist Test Group in view of dermatological presentation rather than immunological
Created: 12 Sep 2019, 2:57 p.m. | Last Modified: 12 Sep 2019, 2:57 p.m.
Panel Version: 1.55
Additional external review added so this gene was reviewed again. Pathogenic variants in CARD14 results in a monogenic autoinflammatory disease, however the the clinical manifestation is dermatological rather than immunological presentation. This gene will remain as Amber on this panel, as it is rated Green on the generalised pustular psoriasis panel
Created: 21 Sep 2018, 11:42 a.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): CARD14 .PanelApp HGNC gene symbol check: CARD14 . IUIS Disease: CAMPS (CARD14 mediated psoriasis) . IUIS Inheritance: AD .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: Mainly in keratinocytes. IUIS Associated features: Psoriasis. IUIS Major category: Autoinflammatory Disorders. IUIS Subcategory: Non-Inflammasome Related Conditions
Created: 2 Jul 2018, 10:35 a.m.
Comment on list classification: demoted from Green to Amber after clinical review. This is more of a dermatological presentation rather than immunological. In view of the number of cases with psoriasis, this gene should be Green on the generalised pustular psoriasis panel.
Created: 29 Jun 2018, 5:31 p.m.
Comment on list classification: Added publications to support upgrading of the gene to Green, there are more than 3 unrelated cases, plus mouse model. Gene also listed on diagnostic panels, Victorian Clinical Genetics Services and GRID.
Created: 27 Jun 2018, 1:37 p.m.
Comment on publications: PMID: 29689250 reported that heterozygous mice harboring a CARD14 gain-of-function mutation spontaneously develop a chronic psoriatic phenotype with characteristic scaling skin lesions, epidermal thickening, keratinocyte hyperproliferation, hyperkeratosis and immune cell infiltration.
Created: 27 Jun 2018, 1:34 p.m.
Spoerri et al. (2018) PMID: 29704870 Psoriasis susceptibility (PSORS)2 and pityriasis rubra pilaris (PRP) are both monogenic autoinflammatory diseases. Both phenotypes have been associated to CARD14 variants (PMID:23648549;22521418; 22703878; 2306708). CARD14 is an epidermal regulator of NF-κB transcription factor, variants in CARD14 initiate a process that includes inflammatory cell recruitment by keratinocytes and perpetuate a vicious cycle of epidermal inflammation and regeneration that cause the abnormal keratinization. c.349G > A, p.Gly117Ser is the the most prevalent variant, and c.413A > C, p.Glu138Ala (a de novo mutation) were shown to lead to enhanced NF-kB activation and upregulation of a subset of psoriasis-associated genes in keratinocytes (PMID:22521418).
Created: 27 Jun 2018, 1:24 p.m.
Comment on publications: added publications to support phenotype
Created: 27 Jun 2018, 1:08 p.m.
The most prevalent pathogenic variant is c.349G>A, p.Gly117Ser, which has been reported in a number of unrelated families and ethnicities PMID:23648549;22521418; 22703878; 2306708.
Created: 27 Jun 2018, 12:15 p.m.
Although most of the cases of Psoriasis are sporadic and acquired, a familial form of the disease exists. The rare familial cases show autosomal dominant inheritance with incomplete penetrance and variable expression. Psoriasis is a chronic immune-mediated inflammatory disease of the skin, this panel includes Autoinflammatory disorders.
Created: 27 Jun 2018, 11:04 a.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: CAD14, PanelApp HGNC gene symbol check: CARD14, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Autoinflammatory disorders / Other autoinflammatory diseases with known genetic defect / Other autoinflammatory diseases with known genetic defect
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: CARD14, GRID_Gene_Symbol: CARD14, GRID_Transcript_ENS_Community submitted: ENST00000344227, GRID_Transcript_RefSeq: NM_024110.4, GRID_Transcript_ENS_used_on_Production: ENST00000344227
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • CARD14 mediated psoriasis
  • Psoriasis 2, 602723
  • Pityriasis rubra pilaris,173200
  • Other autoinflammatory diseases with known genetic defect
  • Psoriasis
  • Autoinflammatory Disorders
  • immune dysregulation
OMIM
607211
Clinvar variants
Variants in CARD14
Penetrance
None
Publications
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: card14 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 CARD14. Publications for gene CARD14 were updated from 23648549; 22521418; 22703878; 23067081; 29704870; 29689250; 23711932; 30248356; 29980436 to 22521418; 30248356; 23648549; 29689250; 22703878; 29980436; 23067081; 29704870; 23711932 Rating Changed from Green List (high evidence) to Red List (low evidence)

17 Sep 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: card14 has been classified as Green List (High Evidence).

17 Sep 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CARD14.

17 Sep 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to CARD14.

17 Sep 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to CARD14.

12 Sep 2019, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CARD14 were set to 23648549; 22521418; 22703878; 23067081; 29704870; 29689250; 23711932

21 Sep 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CARD14 were changed from CARD14 mediated psoriasis; Psoriasis 2, 602723; Pityriasis rubra pilaris,173200; Other autoinflammatory diseases with known genetic defect; Psoriasis; Autoinflammatory Disorders to CARD14 mediated psoriasis; Psoriasis 2, 602723; Pityriasis rubra pilaris,173200; Other autoinflammatory diseases with known genetic defect; Psoriasis; Autoinflammatory Disorders; immune dysregulation

21 Sep 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CARD14 were set to 23648549; 22521418; 22703878; 23067081; 29704870; 29689250

12 Jul 2018, Gel status: 2

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: 2

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene CARD14 were set to CARD14 mediated psoriasis, Psoriasis 2, 602723, Pityriasis rubra pilaris,173200, Other autoinflammatory diseases with known genetic defect, Psoriasis, Autoinflammatory Disorders

29 Jun 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: card14 has been classified as Amber List (Moderate Evidence).

27 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: card14 has been classified as Green List (High Evidence).

27 Jun 2018, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CARD14 were set to 23648549; 22521418; 22703878; 23067081; 29704870; 29689250

27 Jun 2018, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CARD14 were set to 23648549; 22521418; 22703878; 23067081; 29704870

27 Jun 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CARD14 were set to CARD14 mediated psoriasis; Psoriasis 2, 602723; Pityriasis rubra pilaris,173200; Other autoinflammatory diseases with known genetic defect

27 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: card14 has been classified as Green List (High Evidence).

27 Jun 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CARD14 were set to CARD14 mediated psoriasis; Pityriasis rubra pilaris; Other autoinflammatory diseases with known genetic defect

27 Jun 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CARD14 were set to 23648549; 22521418; 22703878; 23067081

27 Jun 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CARD14 were set to 23648549; 22521418; : 22703878; 23067081

27 Jun 2018, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: CARD14 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

26 Jun 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to CARD14. Panel: Primary immunodeficiency disorders

26 Jun 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to CARD14. Panel: Primary immunodeficiency disorders

20 Apr 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Expert Review Amber was added to CARD14. 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 CARD14. Panel: Primary immunodeficiency disorders Phenotypes for gene CARD14 were set to Pityriasis rubra pilaris, Other autoinflammatory diseases with known genetic defect

17 Apr 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene CARD14 were set to Pityriasis rubra pilaris

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

CARD14 was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

CARD14 was created by Louise Daugherty