Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: TRAF3IP2

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.

Created: 3 May 2024, 8:36 p.m. | Last Modified: 3 May 2024, 8:36 p.m.

Panel Version: 5.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Comment 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

Green List (high evidence)

More cases reported - PMID: 34289170; PMID: 33825088; PMID: 33359359

Created: 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

• 34289170
• 33825088
• 33359359

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

I don't know

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

• 24120361
• 31292894
• 20660351

Red List (low evidence)

single kindred described

Created: 29 Jun 2018, 3:53 p.m.

Red List (low evidence)

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.

I don't know

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.