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Primary immunodeficiency or monogenic inflammatory bowel disease v2.513 NOD2 Arina Puzriakova Phenotypes for gene: NOD2 were changed from Blau syndrome 186580; Caspase recruitment domain-containing protein 15 deficiency (CARD15); Uveitis, granulomatous synovitis, camptodactyly, rash and cranial neuropathies, 30% develop Crohn colitis; Autoinflammatory Disorders to Blau syndrome, OMIM:186580; {Inflammatory bowel disease 1, Crohn disease}, OMIM:266600; {Yao syndrome}, OMIM:617321
Primary immunodeficiency or monogenic inflammatory bowel disease v2.288 NOD2 Eleanor Williams Classified gene: NOD2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.288 NOD2 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 v2.288 NOD2 Eleanor Williams Gene: nod2 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 NOD2 Eleanor Williams Source Other was added to NOD2.
Publications for gene NOD2 were updated from 11528384; 18955195; 15459013; 4056967 to 11528384; 25416713; 4056967; 25136265; 15459013; 19479837; 18955195; 28887115
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 NOD2 Eleanor Williams reviewed gene: NOD2: Rating: ; Mode of pathogenicity: ; Publications: 25416713, 28887115, 19479837, 25136265; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NOD2 Louise Daugherty commented on gene: NOD2: 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 NOD2 Louise Daugherty commented on gene: NOD2: 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 NOD2 Kimberly Gilmour reviewed gene: NOD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NOD2 Tracy Briggs reviewed gene: NOD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 NOD2 Louise Daugherty Source NHS GMS was added to NOD2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 NOD2 Louise Daugherty Source North West GLH was added to NOD2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 NOD2 Louise Daugherty Source London North GLH was added to NOD2.
Primary immunodeficiency or monogenic inflammatory bowel disease NOD2 Louise Daugherty edited their review of gene: NOD2
Primary immunodeficiency or monogenic inflammatory bowel disease NOD2 Louise Daugherty marked gene: NOD2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease NOD2 Sophie Hambleton reviewed gene: NOD2
Primary immunodeficiency or monogenic inflammatory bowel disease NOD2 Sarah Leigh classified NOD2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease NOD2 Louise Daugherty commented on NOD2
Primary immunodeficiency or monogenic inflammatory bowel disease NOD2 Louise Daugherty commented on NOD2
Primary immunodeficiency or monogenic inflammatory bowel disease NOD2 Louise Daugherty commented on NOD2
Primary immunodeficiency or monogenic inflammatory bowel disease NOD2 Louise Daugherty reviewed NOD2
Primary immunodeficiency or monogenic inflammatory bowel disease NOD2 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease NOD2 Louise Daugherty Added gene to panel