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Primary immunodeficiency or monogenic inflammatory bowel disease v2.510 NLRC4 Arina Puzriakova Phenotypes for gene: NLRC4 were changed from ?Familial cold autoinflammatory syndrome 4 616115; Autoinflammation with infantile enterocolitis 616050; Severe enterocolitis and macrophage activation syndrome; Autoinflammatory Disorders to Autoinflammation with infantile enterocolitis, OMIM:616050; ?Familial cold autoinflammatory syndrome 4, OMIM:616115; Severe enterocolitis and macrophage activation syndrome; Autoinflammatory Disorders
Primary immunodeficiency or monogenic inflammatory bowel disease v2.285 NLRC4 Eleanor Williams Classified gene: NLRC4 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.285 NLRC4 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 v2.285 NLRC4 Eleanor Williams Gene: nlrc4 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 NLRC4 Eleanor Williams Publications for gene NLRC4 were updated from 27876626; 25217959; 25385754; 25217960 to 27876626; 25217959; 25385754; 25217960
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 NLRC4 Eleanor Williams Source Other was added to NLRC4.
Publications for gene NLRC4 were updated from 25217960; 25217959; 25385754; 27876626 to 27876626; 25217959; 25385754; 25217960
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 NLRC4 Eleanor Williams edited their review of gene: NLRC4: Added comment: The following PubMed IDs were added to entity NLRC4: 25385754. These publications have been associated with OMIM phenotype MIM#616115, 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: 25385754
Primary immunodeficiency or monogenic inflammatory bowel disease v2.207 NLRC4 Eleanor Williams reviewed gene: NLRC4: Rating: ; Mode of pathogenicity: ; Publications: 25217960, 25217959; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NLRC4 Louise Daugherty commented on gene: NLRC4: 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 NLRC4 Louise Daugherty commented on gene: NLRC4: 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 NLRC4 Kimberly Gilmour reviewed gene: NLRC4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NLRC4 Tracy Briggs reviewed gene: NLRC4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 NLRC4 Louise Daugherty Source NHS GMS was added to NLRC4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 NLRC4 Louise Daugherty Source North West GLH was added to NLRC4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 NLRC4 Louise Daugherty Source London North GLH was added to NLRC4.
Primary immunodeficiency or monogenic inflammatory bowel disease NLRC4 Louise Daugherty edited their review of gene: NLRC4
Primary immunodeficiency or monogenic inflammatory bowel disease NLRC4 Louise Daugherty marked gene: NLRC4 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease NLRC4 Sophie Hambleton reviewed gene: NLRC4
Primary immunodeficiency or monogenic inflammatory bowel disease NLRC4 Sarah Leigh classified NLRC4 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease NLRC4 Louise Daugherty commented on NLRC4
Primary immunodeficiency or monogenic inflammatory bowel disease NLRC4 Louise Daugherty reviewed NLRC4
Primary immunodeficiency or monogenic inflammatory bowel disease NLRC4 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease NLRC4 Louise Daugherty Added gene to panel