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Primary immunodeficiency or monogenic inflammatory bowel disease v2.523 CARD14 Arina Puzriakova 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
Primary immunodeficiency or monogenic inflammatory bowel disease v2.226 CARD14 Eleanor Williams Classified gene: CARD14 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.226 CARD14 Eleanor Williams Added comment: 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.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.226 CARD14 Eleanor Williams Gene: card14 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 CARD14 Eleanor Williams 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)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 CARD14 Eleanor Williams reviewed gene: CARD14: Rating: ; Mode of pathogenicity: ; Publications: 22521418; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 CARD14 Louise Daugherty commented on gene: CARD14: Psoriasis ?relevant phenotype (also some evidence of presence in controls - is it useful clinically?
Primary immunodeficiency or monogenic inflammatory bowel disease v1.95 CARD14 Louise Daugherty Classified gene: CARD14 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.95 CARD14 Louise Daugherty Added comment: 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.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.95 CARD14 Louise Daugherty Gene: card14 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CARD14 Louise Daugherty commented on gene: CARD14: 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.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CARD14 Louise Daugherty edited their review of gene: CARD14: Added comment: 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.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CARD14 Kimberly Gilmour reviewed gene: CARD14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CARD14 Tracy Briggs reviewed gene: CARD14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CARD14 Louise Daugherty Source NHS GMS was added to CARD14.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CARD14 Louise Daugherty Source North West GLH was added to CARD14.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CARD14 Louise Daugherty Source London North GLH was added to CARD14.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.55 CARD14 Louise Daugherty commented on gene: CARD14: Review suggest from Tracy Briggs on behalf of North West GLH notes that Somatic mutations cause Ras-associated autoimmune leukoproliferative disorder (RALD)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.55 CARD14 Louise Daugherty Added comment: 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
Primary immunodeficiency or monogenic inflammatory bowel disease v1.55 CARD14 Louise Daugherty Publications for gene: CARD14 were set to 23648549; 22521418; 22703878; 23067081; 29704870; 29689250; 23711932
Primary immunodeficiency or monogenic inflammatory bowel disease v1.19 CARD14 Louise Daugherty 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
Primary immunodeficiency or monogenic inflammatory bowel disease v1.18 CARD14 Louise Daugherty commented on gene: CARD14: 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
Primary immunodeficiency or monogenic inflammatory bowel disease v1.18 CARD14 Louise Daugherty Publications for gene: CARD14 were set to 23648549; 22521418; 22703878; 23067081; 29704870; 29689250
Primary immunodeficiency or monogenic inflammatory bowel disease CARD14 Louise Daugherty commented on gene: CARD14
Primary immunodeficiency or monogenic inflammatory bowel disease CARD14 Louise Daugherty edited their review of gene: CARD14
Primary immunodeficiency or monogenic inflammatory bowel disease CARD14 Louise Daugherty classified CARD14 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease CARD14 Louise Daugherty marked gene: CARD14 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CARD14 Louise Daugherty commented on gene: CARD14
Primary immunodeficiency or monogenic inflammatory bowel disease CARD14 Louise Daugherty edited their review of gene: CARD14
Primary immunodeficiency or monogenic inflammatory bowel disease CARD14 Louise Daugherty classified CARD14 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease CARD14 Louise Daugherty commented on gene: CARD14
Primary immunodeficiency or monogenic inflammatory bowel disease CARD14 Louise Daugherty commented on gene: CARD14
Primary immunodeficiency or monogenic inflammatory bowel disease CARD14 Louise Daugherty commented on gene: CARD14
Primary immunodeficiency or monogenic inflammatory bowel disease CARD14 Sophie Hambleton reviewed gene: CARD14
Primary immunodeficiency or monogenic inflammatory bowel disease CARD14 Louise Daugherty commented on CARD14
Primary immunodeficiency or monogenic inflammatory bowel disease CARD14 Louise Daugherty commented on CARD14
Primary immunodeficiency or monogenic inflammatory bowel disease CARD14 Louise Daugherty commented on CARD14
Primary immunodeficiency or monogenic inflammatory bowel disease CARD14 Louise Daugherty reviewed CARD14
Primary immunodeficiency or monogenic inflammatory bowel disease CARD14 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease CARD14 Louise Daugherty Added gene to panel