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Primary immunodeficiency or monogenic inflammatory bowel disease v3.4 IKBKB Achchuthan Shanmugasundram Tag Q3_22_MOI was removed from gene: IKBKB.
Primary immunodeficiency or monogenic inflammatory bowel disease v3.4 IKBKB Achchuthan Shanmugasundram commented on gene: IKBKB
Primary immunodeficiency or monogenic inflammatory bowel disease v3.3 IKBKB Achchuthan Shanmugasundram Mode of inheritance for gene IKBKB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.554 IKBKB Arina Puzriakova Tag Q3_22_MOI tag was added to gene: IKBKB.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.554 IKBKB Arina Puzriakova Added comment: Comment on mode of inheritance: Should be updated from 'biallelic' to 'both mono- and biallelic' at the next GMS panel update. Both inheritance patterns are associated with a relevant phenotype of primary immunodeficiency, but AR disease is more severe with earlier onset.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.554 IKBKB Arina Puzriakova Mode of inheritance for gene: IKBKB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.553 IKBKB Arina Puzriakova Phenotypes for gene: IKBKB were changed from Immunodeficiency 15, 615592; Combined immunodeficiency; Recurrent bacterial, viral, fungal infections, opportunistic infections; Immunodeficiencies affecting cellular and humoral immunity to Immunodeficiency 15A, OMIM:618204 (AD); Immunodeficiency 15B, OMIM:615592 (AR); Combined immunodeficiency; Recurrent bacterial, viral, fungal infections, opportunistic infections; Immunodeficiencies affecting cellular and humoral immunity
Primary immunodeficiency or monogenic inflammatory bowel disease v2.255 IKBKB Eleanor Williams Classified gene: IKBKB as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.255 IKBKB 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 v2.255 IKBKB Eleanor Williams Gene: ikbkb has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 IKBKB Eleanor Williams Source Other was added to IKBKB.
Publications for gene IKBKB were updated from 25216719; 24369075; 30337470 to 30337470; 25216719; 24369075
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 IKBKB Eleanor Williams reviewed gene: IKBKB: Rating: ; Mode of pathogenicity: ; Publications: 24369075, 25216719; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 IKBKB Louise Daugherty edited their review of gene: IKBKB: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 30337470, 24369075
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 IKBKB Louise Daugherty Publications for gene IKBKB were updated from 24369075; 25216719 to 25216719; 24369075; 30337470
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IKBKB Louise Daugherty commented on gene: IKBKB: 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 IKBKB Louise Daugherty commented on gene: IKBKB: 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 IKBKB Kimberly Gilmour reviewed gene: IKBKB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IKBKB Tracy Briggs reviewed gene: IKBKB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IKBKB Louise Daugherty Source NHS GMS was added to IKBKB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IKBKB Louise Daugherty Source North West GLH was added to IKBKB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IKBKB Louise Daugherty Source London North GLH was added to IKBKB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.22 IKBKB Zornitza Stark reviewed gene: IKBKB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30337470; Phenotypes: combined immune deficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease IKBKB Louise Daugherty edited their review of gene: IKBKB
Primary immunodeficiency or monogenic inflammatory bowel disease IKBKB Louise Daugherty marked gene: IKBKB as ready
Primary immunodeficiency or monogenic inflammatory bowel disease IKBKB Louise Daugherty classified IKBKB as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease IKBKB Sophie Hambleton reviewed gene: IKBKB
Primary immunodeficiency or monogenic inflammatory bowel disease IKBKB Louise Daugherty commented on IKBKB
Primary immunodeficiency or monogenic inflammatory bowel disease IKBKB Louise Daugherty commented on IKBKB
Primary immunodeficiency or monogenic inflammatory bowel disease IKBKB Louise Daugherty commented on IKBKB
Primary immunodeficiency or monogenic inflammatory bowel disease IKBKB Louise Daugherty reviewed IKBKB
Primary immunodeficiency or monogenic inflammatory bowel disease IKBKB Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease IKBKB Louise Daugherty Added gene to panel