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Primary immunodeficiency or monogenic inflammatory bowel disease v8.17 TBK1 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: As reviewed before, there is sufficient evidence available for the association of monoallelic TBK1 variants to this panel based on {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8} phenotype (MIM #617900).

There is sufficient evidence available now (three unrelated families and functional evidence) for the association of biallelic TBK1 variants with autoinflammatory disorder (MIM # 620880).

Hence, the MOI should be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' in the next GMS update.
Primary immunodeficiency or monogenic inflammatory bowel disease v8.17 TBK1 Achchuthan Shanmugasundram Mode of inheritance for gene: TBK1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary immunodeficiency or monogenic inflammatory bowel disease v8.16 TBK1 Achchuthan Shanmugasundram Phenotypes for gene: TBK1 were changed from Herpes simplex encephalitis, susceptibility to; Herpetic encephalitis (HSE); {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8} 617900; Herpes simplex virus 1 encephalitis; Defects in Intrinsic and Innate Immunity to {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8}, OMIM:617900; Autoinflammation with arthritis and vasculitis, OMIM:620880
Primary immunodeficiency or monogenic inflammatory bowel disease v8.15 TBK1 Achchuthan Shanmugasundram Publications for gene: TBK1 were set to 22851595; 26513235
Primary immunodeficiency or monogenic inflammatory bowel disease v8.14 TBK1 Achchuthan Shanmugasundram Tag Q2_25_ MOI tag was added to gene: TBK1.
Primary immunodeficiency or monogenic inflammatory bowel disease v8.14 TBK1 Achchuthan Shanmugasundram reviewed gene: TBK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34363755; Phenotypes: {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8}, OMIM:617900, Autoinflammation with arthritis and vasculitis, OMIM:620880; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TBK1 Louise Daugherty commented on gene: TBK1: 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 TBK1 Louise Daugherty commented on gene: TBK1: 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 TBK1 Kimberly Gilmour reviewed gene: TBK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TBK1 Tracy Briggs reviewed gene: TBK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 TBK1 Louise Daugherty Source NHS GMS was added to TBK1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 TBK1 Louise Daugherty Source North West GLH was added to TBK1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 TBK1 Louise Daugherty Source London North GLH was added to TBK1.
Primary immunodeficiency or monogenic inflammatory bowel disease TBK1 Louise Daugherty edited their review of gene: TBK1
Primary immunodeficiency or monogenic inflammatory bowel disease TBK1 Louise Daugherty marked gene: TBK1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease TBK1 Sophie Hambleton reviewed gene: TBK1
Primary immunodeficiency or monogenic inflammatory bowel disease TBK1 Eleanor Williams classified TBK1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TBK1 Eleanor Williams edited their review of gene: TBK1
Primary immunodeficiency or monogenic inflammatory bowel disease TBK1 Eleanor Williams edited their review of gene: TBK1
Primary immunodeficiency or monogenic inflammatory bowel disease TBK1 Louise Daugherty edited their review of gene: TBK1
Primary immunodeficiency or monogenic inflammatory bowel disease TBK1 Louise Daugherty edited their review of gene: TBK1
Primary immunodeficiency or monogenic inflammatory bowel disease TBK1 Louise Daugherty classified TBK1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TBK1 Louise Daugherty commented on TBK1
Primary immunodeficiency or monogenic inflammatory bowel disease TBK1 Louise Daugherty commented on TBK1
Primary immunodeficiency or monogenic inflammatory bowel disease TBK1 Louise Daugherty commented on TBK1
Primary immunodeficiency or monogenic inflammatory bowel disease TBK1 Louise Daugherty reviewed TBK1
Primary immunodeficiency or monogenic inflammatory bowel disease TBK1 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease TBK1 Louise Daugherty Added gene to panel