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Primary immunodeficiency

Gene: TRAF3IP2

Amber List (moderate evidence)

TRAF3IP2 (TRAF3 interacting protein 2)
EnsemblGeneIds (GRCh38): ENSG00000056972
EnsemblGeneIds (GRCh37): ENSG00000056972
OMIM: 607043, Gene2Phenotype
TRAF3IP2 is in 4 panels

5 reviews

Ivone Leong (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

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

Sophie Hambleton (Newcastle University)

Red List (low evidence)

single kindred described
Created: 29 Jun 2018, 3:53 p.m.

Eleanor Williams (Genomics England Curator)

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.

Louise Daugherty (Genomics England Curator)

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • 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
OMIM
607043
Clinvar variants
Variants in TRAF3IP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: traf3ip2 has been classified as Amber List (Moderate Evidence).

15 Apr 2020, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: TRAF3IP2 were set to 32048120; 24120361; 32086639

28 Feb 2020, Gel status: 1

Added New Source, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

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

12 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

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.

5 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: traf3ip2 has been classified as Red List (Low Evidence).

5 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: traf3ip2 has been classified as Red List (Low Evidence).

1 Jul 2018, Gel status: 2

Set penetrance

Louise Daugherty (Genomics England Curator)

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

26 Jun 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to TRAF3IP2. Panel: Primary immunodeficiency disorders

26 Jun 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to TRAF3IP2. Panel: Primary immunodeficiency disorders

26 Jun 2018, Gel status: 2

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: TRAF3IP2 were set to 24120361

21 Jun 2018, Gel status: 2

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: TRAF3IP2 were set to Candidiasis, familial, 8 615527; Chronic mucocutaneous candidiasis (CMC)

19 Apr 2018, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

17 Apr 2018, Gel status: 1

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

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)

17 Apr 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene TRAF3IP2 were set to Candidiasis, familial, 8

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

TRAF3IP2 was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

TRAF3IP2 was created by Louise Daugherty