COVID-19 researchGene: TRAF3IP2
single kindred described
Created: 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, 8
Created: 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, 8
Created: 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 GRID
Created: 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 Candidiasis
Created: 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: ENST00000340026
Created: 17 Apr 2018, 12:12 p.m.
Source Expert Review Green was added to TRAF3IP2. Added phenotypes Defects in Intrinsic and Innate Immunity; Chronic mucocutaneous candidiasis (CMC); Defects in intrinsic and innate immunity; Candidiasis, familial, 8 615527; CMC, blepharitis, folliculitis and macroglossia for gene: TRAF3IP2 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: TRAF3IP2 was added gene: TRAF3IP2 was added to Viral susceptibility. Sources: ESID Registry 20171117,Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification December 2019,Expert Review Red,IUIS Classification February 2018 Mode of inheritance for gene: TRAF3IP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAF3IP2 were set to 32086639; 24120361; 32048120 Phenotypes for gene: TRAF3IP2 were set to Defects in Intrinsic and Innate Immunity; Chronic mucocutaneous candidiasis (CMC); Defects in intrinsic and innate immunity; Candidiasis, familial, 8 615527; CMC, blepharitis, folliculitis and macroglossia