Activity
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9 actions
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| Autoinflammatory disorders v2.34 | COPA |
Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: COPA. Tag Q2_25_ NHS_review was removed from gene: COPA. |
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| Autoinflammatory disorders v2.34 | COPA | Achchuthan Shanmugasundram reviewed gene: COPA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.33 | COPA |
Achchuthan Shanmugasundram Source NHS GMS was added to COPA. Source Expert Review Green was added to COPA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Autoinflammatory disorders v2.10 | COPA | Achchuthan Shanmugasundram Tag Q2_25_ NHS_review tag was added to gene: COPA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.5 | COPA | Dorota Rowczenio reviewed gene: COPA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27048656, PMID: 31455335, PMID: 3976718, PMID: 34900872, PMID: 30385646, Jensson, B.O., Hansdottir, S., Arnadottir, G.A. et al. COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA . BMC Med Genet 18, 129 (2017).; Phenotypes: Autoimmune interstitial lung, joint, and kidney disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.5 | COPA | Arina Puzriakova Classified gene: COPA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.5 | COPA | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.5 | COPA | Arina Puzriakova Gene: copa has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.4 | COPA |
Arina Puzriakova gene: COPA was added gene: COPA was added to Autoinflammatory disorders. Sources: Literature Q2_25_ promote_green tags were added to gene: COPA. Mode of inheritance for gene: COPA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: COPA were set to 25894502; 31455335; 38175705 Phenotypes for gene: COPA were set to {Autoinflammation and autoimmunity, systemic, with immune dysregulation}, OMIM:616414; COPA syndrome Review for gene: COPA was set to GREEN Added comment: Heterozygous variants in the COPA gene cause an autoinflammatory disorder that affects multiple organ systems. Affected individuals usually present in the first decade of life with variable features including interstitial lung disease with or without pulmonary hemorrhage, inflammatory arthritis, recurrent infections, and renal disease. Laboratory studies show evidence of systemic inflammation. At least 9 unrelated families with more than 20 affected individuals have been reported in the literature (PMIDs: PMID: 25894502; 31455335; 38175705). Variant hotspots include the WD40 domain and the C-terminal domain of the COPA protein. Sources: Literature |
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