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Primary immunodeficiency or monogenic inflammatory bowel disease v2.511 NLRP12 Arina Puzriakova Phenotypes for gene: NLRP12 were changed from Familial cold autoinflammatory syndrome 2, 611762; preterm premature rupture of membranes (PPROM); Non-pruritic urticaria, arthritis, chills, fever and leukocytosis after cold exposure.; Autoinflammatory Disorders to Familial cold autoinflammatory syndrome 2, OMIM:611762; Non-pruritic urticaria, arthritis, chills, fever and leukocytosis after cold exposure; Preterm premature rupture of membranes (PPROM); Autoinflammatory Disorders
Primary immunodeficiency or monogenic inflammatory bowel disease v2.286 NLRP12 Eleanor Williams Classified gene: NLRP12 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.286 NLRP12 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 v2.286 NLRP12 Eleanor Williams Gene: nlrp12 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 NLRP12 Eleanor Williams Source Other was added to NLRP12.
Publications for gene NLRP12 were updated from 18230725; 27779193; 27633793; 29178652; 29248470 to 18230725; 27633793; 29178652; 21360512; 27779193; 29248470
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 NLRP12 Eleanor Williams reviewed gene: NLRP12: Rating: ; Mode of pathogenicity: ; Publications: 18230725, 27633793, 21360512; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NLRP12 Louise Daugherty commented on gene: NLRP12: 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 NLRP12 Louise Daugherty commented on gene: NLRP12: 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 NLRP12 Kimberly Gilmour reviewed gene: NLRP12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NLRP12 Tracy Briggs reviewed gene: NLRP12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 NLRP12 Louise Daugherty Source NHS GMS was added to NLRP12.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 NLRP12 Louise Daugherty Source North West GLH was added to NLRP12.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 NLRP12 Louise Daugherty Source London North GLH was added to NLRP12.
Primary immunodeficiency or monogenic inflammatory bowel disease NLRP12 Louise Daugherty edited their review of gene: NLRP12
Primary immunodeficiency or monogenic inflammatory bowel disease NLRP12 Louise Daugherty marked gene: NLRP12 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease NLRP12 Sophie Hambleton reviewed gene: NLRP12
Primary immunodeficiency or monogenic inflammatory bowel disease NLRP12 Sarah Leigh classified NLRP12 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease NLRP12 Louise Daugherty commented on NLRP12
Primary immunodeficiency or monogenic inflammatory bowel disease NLRP12 Louise Daugherty reviewed NLRP12
Primary immunodeficiency or monogenic inflammatory bowel disease NLRP12 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease NLRP12 Louise Daugherty Added gene to panel