Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: TRAF3IP2Comment on list classification: As reviewed by Hannah Knight, there is sufficient evidence available for promotion of this gene to green rating in the next GMS review.Created: 1 Nov 2023, 4:25 p.m. | Last Modified: 1 Nov 2023, 4:25 p.m.
Panel Version: 4.87
More cases reported - PMID: 34289170; PMID: 33825088; PMID: 33359359Created: 13 Oct 2023, 11:14 a.m. | Last Modified: 13 Oct 2023, 11:14 a.m.
Panel Version: 4.41
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Candidiasis, familial, 8
Publications
Comment on list classification: Promoted from Red to Amber based on expert review and evidence.Created: 15 Apr 2020, 3:26 p.m. | Last Modified: 15 Apr 2020, 3:26 p.m.
Panel Version: 2.73
Second unrelated individual reported.Created: 12 Apr 2020, 4:23 a.m. | Last Modified: 12 Apr 2020, 4:23 a.m.
Panel Version: 2.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Candidiasis, familial, 8, MIM# 615527
Publications
single kindred describedCreated: 29 Jun 2018, 3:53 p.m.
Rated red as only one published case of association of variant with Candidiasis, familial, 8.Created: 26 Jun 2018, 10:21 a.m.
Comment on publications: Added publication reporting variant in TRAF3IP2 associated with Candidiasis, familial, 8Created: 26 Jun 2018, 10:20 a.m.
In OMIM the TRAF3IP2 gene (also known as ACT1) is provisionally associated with Candidiasis, familial, 8 and with Psoriasis susceptibility 13 (a multifactorial disorder). Psoriasis susceptibility 13 is a chronic inflammatory disease of the skin but is considered multifactorial in its etiology. In OMIM evidence for association with Candidiasis, familial, 8 comes from Boisson et al. (2013) (PMID: 24120361) who identified a homozygous missense mutation in the TRAF3IP2 gene in an affected brother and sister from a consanguineous Algerian family with chronic mucocutaneous candidiasis. No other cases found through Gene2Phenotype, jensenlab diseases search or PubMed search.Created: 26 Jun 2018, 10:18 a.m.
Comment on phenotypes: Added MIM number associated with Candidiasis, familial, 8Created: 21 Jun 2018, 3:46 p.m.
Comment on list classification: Changed from Amber to Red until more info to support gene-disease association. Currently only one case reported in literature. Request evidences / immunological association of this gene from Victorian Clinical Genetics Services and GRIDCreated: 5 Jul 2018, 2:47 p.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): TRAF3IP2 .PanelApp HGNC gene symbol check: TRAF3IP2 . IUIS Disease: ACT1 deficiency . IUIS Inheritance: AR .T cells: Low CD8, Nl CD4 number but poor function, .B cells: N/A, .IUIS Other affected cells: T cells, fibroblasts. IUIS Associated features: CMC, blepharitis, folliculitis and macroglossia. IUIS Major category: Defects in Intrinsic and Innate Immunity. IUIS Subcategory: Predisposition to Mucocutaneous CandidiasisCreated: 2 Jul 2018, 10:35 a.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s)
GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.Created: 19 Apr 2018, 11:21 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: ACT1, PanelApp HGNC gene symbol check: TRAF3IP2, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Defects in innate immunity / Chronic mucocutaneous candidiasis (CMC) / Chronic mucocutaneous candidiasis (CMC)Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: TRAF3IP2, GRID_Gene_Symbol: TRAF3IP2, GRID_Transcript_ENS_Community submitted: ENST00000340026, GRID_Transcript_RefSeq: null, GRID_Transcript_ENS_used_on_Production: ENST00000340026Created: 17 Apr 2018, 12:12 p.m.
Gene: traf3ip2 has been classified as Amber List (Moderate Evidence).
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
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
Publications for gene: TRAF3IP2 were set to 32048120; 24120361; 32086639; 31292894; 20660351
Tag Q4_23_promote_green tag was added to gene: TRAF3IP2. Tag Q4_23_NHS_review tag was added to gene: TRAF3IP2.
Gene: traf3ip2 has been classified as Amber List (Moderate Evidence).
Publications for gene: TRAF3IP2 were set to 32048120; 24120361; 32086639
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
2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.
Gene: traf3ip2 has been classified as Red List (Low Evidence).
Gene: traf3ip2 has been classified as Red List (Low Evidence).
Phenotypes for gene TRAF3IP2 were set to Candidiasis, familial, 8 615527, Chronic mucocutaneous candidiasis (CMC), CMC, blepharitis, folliculitis and macroglossia, Defects in Intrinsic and Innate Immunity
IUIS Classification February 2018 was added to TRAF3IP2. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to TRAF3IP2. Panel: Primary immunodeficiency disorders
Publications for gene: TRAF3IP2 were set to 24120361
Phenotypes for gene: TRAF3IP2 were set to Candidiasis, familial, 8 615527; Chronic mucocutaneous candidiasis (CMC)
This gene has been classified as Amber List (Moderate Evidence).
ESID Registry 20171117 was added to TRAF3IP2. Panel: Primary immunodeficiency disorders Phenotypes for gene TRAF3IP2 were set to Candidiasis, familial, 8, Chronic mucocutaneous candidiasis (CMC)
Phenotypes for gene TRAF3IP2 were set to Candidiasis, familial, 8
TRAF3IP2 was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0
TRAF3IP2 was created by Louise Daugherty