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Primary immunodeficiency or monogenic inflammatory bowel disease v2.512 NLRP3 Arina Puzriakova Phenotypes for gene: NLRP3 were changed from CINCA syndrome 607115; Muckle-Wells syndrome 191900; Familial cold autoinflammatory syndrome 1 120100; Deafness, autosomal dominant 34, with or without inflammation 617772; Non-pruritic urticaria, arthritis, chills, fever and leukocytosis after cold exposure; Autoinflammatory Disorders; Neonatal onset rash, chronic meningitis, and arthropathy with fever and inflammation; Urticaria, SNHL, amyloidosis to CINCA syndrome, OMIM:607115; Deafness, autosomal dominant 34, with or without inflammation, OMIM:617772; Familial cold inflammatory syndrome 1, OMIM:120100; Muckle-Wells syndrome, OMIM:191900
Primary immunodeficiency or monogenic inflammatory bowel disease v2.287 NLRP3 Eleanor Williams Classified gene: NLRP3 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.287 NLRP3 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 v2.287 NLRP3 Eleanor Williams Gene: nlrp3 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 NLRP3 Eleanor Williams Publications for gene NLRP3 were updated from 28847925; 12522564; 11590390; 14872505; 14476827; 29366613; 11992256; 12032915; 11687797 to 28847925; 12522564; 11590390; 14872505; 18423104; 14476827; 29366613; 11992256; 12032915; 11687797
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 NLRP3 Eleanor Williams Publications for gene NLRP3 were updated from 28847925; 12522564; 29366613; 11992256; 12032915; 11687797 to 28847925; 12522564; 11590390; 14872505; 14476827; 29366613; 11992256; 12032915; 11687797
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 NLRP3 Eleanor Williams Source Other was added to NLRP3.
Publications for gene NLRP3 were updated from 11687797; 11992256; 12032915; 12522564; 28847925; 29366613 to 28847925; 12522564; 29366613; 11992256; 12032915; 11687797
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 NLRP3 Eleanor Williams edited their review of gene: NLRP3: Added comment: The following PubMed IDs were added to entity NLRP3: 12032915. These publications have been associated with OMIM phenotype MIM#607115, 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.; Changed publications: 12032915
Primary immunodeficiency or monogenic inflammatory bowel disease v2.207 NLRP3 Eleanor Williams edited their review of gene: NLRP3: Added comment: The following PubMed IDs were added to entity NLRP3: 14476827;14872505;11590390. These publications have been associated with OMIM phenotype MIM#191900, 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.; Changed publications: 14476827, 14872505, 11590390
Primary immunodeficiency or monogenic inflammatory bowel disease v2.206 NLRP3 Eleanor Williams reviewed gene: NLRP3: Rating: ; Mode of pathogenicity: ; Publications: 18423104, 11590390; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NLRP3 Louise Daugherty commented on gene: NLRP3: 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 NLRP3 Louise Daugherty commented on gene: NLRP3: 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.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NLRP3 Kimberly Gilmour reviewed gene: NLRP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NLRP3 Tracy Briggs reviewed gene: NLRP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 NLRP3 Louise Daugherty Source NHS GMS was added to NLRP3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 NLRP3 Louise Daugherty Source North West GLH was added to NLRP3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 NLRP3 Louise Daugherty Source London North GLH was added to NLRP3.
Primary immunodeficiency or monogenic inflammatory bowel disease NLRP3 Louise Daugherty edited their review of gene: NLRP3
Primary immunodeficiency or monogenic inflammatory bowel disease NLRP3 Louise Daugherty marked gene: NLRP3 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease NLRP3 Sophie Hambleton reviewed gene: NLRP3
Primary immunodeficiency or monogenic inflammatory bowel disease NLRP3 Sarah Leigh classified NLRP3 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease NLRP3 Louise Daugherty commented on NLRP3
Primary immunodeficiency or monogenic inflammatory bowel disease NLRP3 Louise Daugherty commented on NLRP3
Primary immunodeficiency or monogenic inflammatory bowel disease NLRP3 Louise Daugherty commented on NLRP3
Primary immunodeficiency or monogenic inflammatory bowel disease NLRP3 Louise Daugherty reviewed NLRP3
Primary immunodeficiency or monogenic inflammatory bowel disease NLRP3 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease NLRP3 Louise Daugherty Added gene to panel