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Primary immunodeficiency or monogenic inflammatory bowel disease v4.197 IKBKG Arina Puzriakova Phenotypes for gene: IKBKG were changed from Immunodeficiency 33, 300636; Ectodermal dysplasia, hypohidrotic, with immune deficiency 300291; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301; Immunodeficiency, isolated, 300584; Invasive pneumococcal disease, recurrent isolated, 2,300640; Defects of TLR/NFkappa-B signalling; Anhidrotic ectodermal dysplasia (in some), various infections (bacteria, mycobacteria, viruses and fungi), colitis, conical teeth, variable defects of skin, hair and teeth, monocyte dysfunction; Combined immunodeficiencies with associated or syndromic features to Ectodermal dysplasia and immunodeficiency 1, OMIM:300291; Immunodeficiency 33, OMIM:300636
Primary immunodeficiency or monogenic inflammatory bowel disease v2.256 IKBKG Eleanor Williams Classified gene: IKBKG as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.256 IKBKG 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 v2.256 IKBKG Eleanor Williams Gene: ikbkg has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 IKBKG Eleanor Williams Source Other was added to IKBKG.
Publications for gene IKBKG were updated from 11047757 to 16818673; 11179023; 16950813; 15356572; 11047757
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 IKBKG Eleanor Williams reviewed gene: IKBKG: Rating: ; Mode of pathogenicity: ; Publications: 16818673, 16950813, 11047757, 15356572, 11179023; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IKBKG Louise Daugherty commented on gene: IKBKG: 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 IKBKG Louise Daugherty commented on gene: IKBKG: 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 IKBKG Kimberly Gilmour reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IKBKG Tracy Briggs reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IKBKG Louise Daugherty Source NHS GMS was added to IKBKG.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IKBKG Louise Daugherty Source North West GLH was added to IKBKG.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IKBKG Louise Daugherty Source London North GLH was added to IKBKG.
Primary immunodeficiency or monogenic inflammatory bowel disease IKBKG Louise Daugherty edited their review of gene: IKBKG
Primary immunodeficiency or monogenic inflammatory bowel disease IKBKG Louise Daugherty marked gene: IKBKG as ready
Primary immunodeficiency or monogenic inflammatory bowel disease IKBKG Louise Daugherty classified IKBKG as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease IKBKG Sophie Hambleton reviewed gene: IKBKG
Primary immunodeficiency or monogenic inflammatory bowel disease IKBKG Louise Daugherty commented on IKBKG
Primary immunodeficiency or monogenic inflammatory bowel disease IKBKG Louise Daugherty commented on IKBKG
Primary immunodeficiency or monogenic inflammatory bowel disease IKBKG Louise Daugherty commented on IKBKG
Primary immunodeficiency or monogenic inflammatory bowel disease IKBKG Louise Daugherty reviewed IKBKG
Primary immunodeficiency or monogenic inflammatory bowel disease IKBKG Louise Daugherty Added gene to panel