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Primary immunodeficiency or monogenic inflammatory bowel disease v7.26 TRAF3 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: TRAF3.
Primary immunodeficiency or monogenic inflammatory bowel disease v7.26 TRAF3 Achchuthan Shanmugasundram commented on gene: TRAF3: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v7.25 TRAF3 Achchuthan Shanmugasundram Source NHS GMS was added to TRAF3.
Source Expert Review Green was added to TRAF3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v7.13 TRAF3 Achchuthan Shanmugasundram Classified gene: TRAF3 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v7.13 TRAF3 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available now for the promotion of this gene to green rating in the next GMS update.
Primary immunodeficiency or monogenic inflammatory bowel disease v7.13 TRAF3 Achchuthan Shanmugasundram Gene: traf3 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v7.12 TRAF3 Achchuthan Shanmugasundram Phenotypes for gene: TRAF3 were changed from Herpes simplex encephalitis, susceptibility to, 3; Defects in Intrinsic and Innate Immunity; {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5},614849; Herpes simplex virus 1 encephalitis; Herpetic encephalitis (HSE); Defects in intrinsic and innate immunity to {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, OMIM:614849; immune dysregulation, autoimmunity, and autoinflammation, MONDO:0957790
Primary immunodeficiency or monogenic inflammatory bowel disease v7.11 TRAF3 Achchuthan Shanmugasundram Publications for gene: TRAF3 were set to 24378539; 20832341; 32048120; 11296228; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v7.10 TRAF3 Achchuthan Shanmugasundram Mode of inheritance for gene: TRAF3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v7.9 TRAF3 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: TRAF3.
Primary immunodeficiency or monogenic inflammatory bowel disease v7.9 TRAF3 Achchuthan Shanmugasundram reviewed gene: TRAF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 35960817; Phenotypes: immune dysregulation, autoimmunity, and autoinflammation, MONDO:0957790; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v6.16 TRAF3 Dmitrijs Rots reviewed gene: TRAF3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35960817; Phenotypes: Immunodeficiency, autoimmunity, and increased risk of B cell malignancy in humans with TRAF3 mutations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 TRAF3IP2 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: TRAF3IP2.
Tag Q4_23_NHS_review was removed from gene: TRAF3IP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 TRAF3IP2 Sarah Leigh reviewed gene: TRAF3IP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 TRAF3IP2 Achchuthan Shanmugasundram Source NHS GMS was added to TRAF3IP2.
Source Expert Review Green was added to TRAF3IP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.87 TRAF3IP2 Achchuthan Shanmugasundram Classified gene: TRAF3IP2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.87 TRAF3IP2 Achchuthan Shanmugasundram Gene: traf3ip2 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.86 TRAF3IP2 Achchuthan Shanmugasundram Phenotypes for gene: TRAF3IP2 were changed from Defects in Intrinsic and Innate Immunity; CMC, blepharitis, folliculitis and macroglossia; Chronic mucocutaneous candidiasis (CMC); Defects in intrinsic and innate immunity; ?Candidiasis, familial, 88 615527 to ?Candidiasis, familial, 8, OMIM:615527; Defects in Intrinsic and Innate Immunity; CMC, blepharitis, folliculitis and macroglossia; Chronic mucocutaneous candidiasis (CMC); Defects in intrinsic and innate immunity
Primary immunodeficiency or monogenic inflammatory bowel disease v4.85 TRAF3IP2 Achchuthan Shanmugasundram Phenotypes for gene: TRAF3IP2 were changed from Defects in Intrinsic and Innate Immunity; CMC, blepharitis, folliculitis and macroglossia; Chronic mucocutaneous candidiasis (CMC); Defects in intrinsic and innate immunity; Candidiasis, familial, 8 615527 to Defects in Intrinsic and Innate Immunity; CMC, blepharitis, folliculitis and macroglossia; Chronic mucocutaneous candidiasis (CMC); Defects in intrinsic and innate immunity; ?Candidiasis, familial, 88 615527
Primary immunodeficiency or monogenic inflammatory bowel disease v4.84 TRAF3IP2 Achchuthan Shanmugasundram Publications for gene: TRAF3IP2 were set to 32048120; 24120361; 32086639; 31292894; 20660351
Primary immunodeficiency or monogenic inflammatory bowel disease v4.83 TRAF3IP2 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: TRAF3IP2.
Tag Q4_23_NHS_review tag was added to gene: TRAF3IP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.41 TRAF3IP2 Hannah Knight reviewed gene: TRAF3IP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34289170, 33825088, 33359359; Phenotypes: ?Candidiasis, familial, 8; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.73 TRAF3IP2 Ivone Leong Classified gene: TRAF3IP2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.73 TRAF3IP2 Ivone Leong Gene: traf3ip2 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.69 TRAF3IP2 Ivone Leong Publications for gene: TRAF3IP2 were set to 32048120; 24120361; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 TRAF3IP2 Zornitza Stark reviewed gene: TRAF3IP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24120361, 31292894, 20660351; Phenotypes: Candidiasis, familial, 8, MIM# 615527; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 TRAF3IP2 Louise Daugherty Source IUIS Classification December 2019 was added to TRAF3IP2.
Added phenotypes CMC, blepharitis, folliculitis and macroglossia; Defects in intrinsic and innate immunity for gene: TRAF3IP2
Publications for gene TRAF3IP2 were updated from 24120361 to 32048120; 24120361; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 TRAF3 Louise Daugherty Source IUIS Classification December 2019 was added to TRAF3.
Added phenotypes Defects in intrinsic and innate immunity; Herpes simplex virus 1 encephalitis for gene: TRAF3
Publications for gene TRAF3 were updated from 20832341; 11296228; 24378539 to 24378539; 20832341; 32048120; 11296228; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease TRAF3IP2 Louise Daugherty marked gene: TRAF3IP2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease TRAF3IP2 Louise Daugherty classified TRAF3IP2 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TRAF3 Louise Daugherty marked gene: TRAF3 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease TRAF3 Louise Daugherty classified TRAF3 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TRAF3IP2 Louise Daugherty commented on gene: TRAF3IP2
Primary immunodeficiency or monogenic inflammatory bowel disease TRAF3 Louise Daugherty commented on gene: TRAF3
Primary immunodeficiency or monogenic inflammatory bowel disease TRAF3IP2 Sophie Hambleton reviewed gene: TRAF3IP2
Primary immunodeficiency or monogenic inflammatory bowel disease TRAF3 Sophie Hambleton reviewed gene: TRAF3
Primary immunodeficiency or monogenic inflammatory bowel disease TRAF3 Eleanor Williams reviewed gene: TRAF3
Primary immunodeficiency or monogenic inflammatory bowel disease TRAF3IP2 Eleanor Williams edited their review of gene: TRAF3IP2
Primary immunodeficiency or monogenic inflammatory bowel disease TRAF3IP2 Eleanor Williams commented on gene: TRAF3IP2
Primary immunodeficiency or monogenic inflammatory bowel disease TRAF3 Louise Daugherty classified TRAF3 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TRAF3 Louise Daugherty commented on TRAF3
Primary immunodeficiency or monogenic inflammatory bowel disease TRAF3IP2 Louise Daugherty commented on TRAF3IP2
Primary immunodeficiency or monogenic inflammatory bowel disease TRAF3IP2 Louise Daugherty classified TRAF3IP2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TRAF3IP2 Louise Daugherty edited their review of TRAF3IP2
Primary immunodeficiency or monogenic inflammatory bowel disease TRAF3IP2 Louise Daugherty commented on TRAF3IP2
Primary immunodeficiency or monogenic inflammatory bowel disease TRAF3 Louise Daugherty commented on TRAF3
Primary immunodeficiency or monogenic inflammatory bowel disease TRAF3IP2 Louise Daugherty commented on TRAF3IP2
Primary immunodeficiency or monogenic inflammatory bowel disease TRAF3 Louise Daugherty commented on TRAF3
Primary immunodeficiency or monogenic inflammatory bowel disease TRAF3IP2 Louise Daugherty reviewed TRAF3IP2
Primary immunodeficiency or monogenic inflammatory bowel disease TRAF3 Louise Daugherty reviewed TRAF3
Primary immunodeficiency or monogenic inflammatory bowel disease TRAF3 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease TRAF3 Louise Daugherty Added gene to panel