Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: CARD14Comment 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
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
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 immunologicalCreated: 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 panelCreated: 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 ConditionsCreated: 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 phenotypeCreated: 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 defectCreated: 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: ENST00000344227Created: 17 Apr 2018, 12:12 p.m.
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; immune dysregulation to Pityriasis rubra pilaris, OMIM:173200; Psoriasis 2, OMIM:602723; Autoinflammatory Disorders
Gene: card14 has been classified as Green List (High Evidence).
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)
Gene: card14 has been classified as Green List (High Evidence).
Source NHS GMS was added to CARD14.
Source North West GLH was added to CARD14.
Source London North GLH was added to CARD14.
Publications for gene: CARD14 were set to 23648549; 22521418; 22703878; 23067081; 29704870; 29689250; 23711932
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
Publications for gene: CARD14 were set to 23648549; 22521418; 22703878; 23067081; 29704870; 29689250
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.
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
Gene: card14 has been classified as Amber List (Moderate Evidence).
Gene: card14 has been classified as Green List (High Evidence).
Publications for gene: CARD14 were set to 23648549; 22521418; 22703878; 23067081; 29704870; 29689250
Publications for gene: CARD14 were set to 23648549; 22521418; 22703878; 23067081; 29704870
Phenotypes for gene: CARD14 were set to CARD14 mediated psoriasis; Psoriasis 2, 602723; Pityriasis rubra pilaris,173200; Other autoinflammatory diseases with known genetic defect
Gene: card14 has been classified as Green List (High Evidence).
Phenotypes for gene: CARD14 were set to CARD14 mediated psoriasis; Pityriasis rubra pilaris; Other autoinflammatory diseases with known genetic defect
Publications for gene: CARD14 were set to 23648549; 22521418; 22703878; 23067081
Publications for gene: CARD14 were set to 23648549; 22521418; : 22703878; 23067081
Mode of inheritance for gene: CARD14 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
IUIS Classification February 2018 was added to CARD14. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to CARD14. Panel: Primary immunodeficiency disorders
Expert Review Amber was added to CARD14. Panel: Primary immunodeficiency disorders
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
Phenotypes for gene CARD14 were set to Pityriasis rubra pilaris
CARD14 was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0
CARD14 was created by Louise Daugherty