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COVID-19 research

Gene: XIAP

Green List (high evidence)

XIAP (X-linked inhibitor of apoptosis)
EnsemblGeneIds (GRCh38): ENSG00000101966
EnsemblGeneIds (GRCh37): ENSG00000101966
OMIM: 300079, Gene2Phenotype
XIAP is in 6 panels

5 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Eleanor Williams (Genomics England Curator)

Comment on publications: Adding publications from reviewer and OMIM
Created: 20 Jun 2018, 9:16 a.m.
XIAP is associated with Lymphoproliferative syndrome, X-linked, 2 in OMIM. This is an X-linked primary immune deficiency. OMIM report multiple cases of variants in the XIAP gene being associated with Lymphoproliferative syndrome, X-linked in Rigaud et al. (2006) (PMID: 17080092), Worthey et al. (2011) (PMID: 21173700), Yang et al. (2012) (PMID: 22228567), Dziadzio et al (2015) (PMID: 25943627). From these four studies 11 families were examined. Variant change effects include hemizygous frameshift, nonsense, missense and deletion mutations. The family described in Dziadzio et al (2015) includes female carriers with random X-inactivation which led to inflammatory symptoms.
Created: 20 Jun 2018, 9:13 a.m.

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
haemophagocytic lymphohistiocytosis; inflammatory bowel disease; splenomegaly

Publications

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): XIAP .PanelApp HGNC gene symbol check: XIAP . IUIS Disease: XIAP deficiency (XLP2) . IUIS Inheritance: XL , .B cells: Normal or reduced Memory B cells, .IUIS Other affected cells: N/A. IUIS Associated features: EBV infection, Splenomegaly, lymphoproliferation, HLH, Colitis, IBD, hepatitis, Low iNKT cells, hypogammaglobulinemia. IUIS Major category: Diseases of Immune Dysregulation. IUIS Subcategory: Susceptibility to EBV and Lymphoproliferative Conditions
Created: 2 Jul 2018, 10:35 a.m.
Comment on list classification: Changed Amber to Green from external review comment and further publications to support gene-disease association
Created: 20 Jun 2018, 9:31 p.m.
Comment on phenotypes: Added phenotypes suggested from external expert review.
Created: 20 Jun 2018, 9:25 p.m.
Comment on mode of inheritance: Added MOI from external expert review (changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females)
Created: 20 Jun 2018, 9:24 p.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, 10:30 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: BIRC4/XIAP (XLP2), PanelApp HGNC gene symbol check: XIAP, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Diseases of immune dysregulation / Hemophagocytic Lymphohistiocytosis (HLH) / X-linked lymphoproliferative syndrome (XLP)
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: XIAP, GRID_Gene_Symbol: XIAP, GRID_Transcript_ENS_Community submitted: ENST00000371199, GRID_Transcript_RefSeq: NM_001167.3, GRID_Transcript_ENS_used_on_Production: ENST00000371199
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
Phenotypes
  • Lymphoproliferative syndrome, X-linked, 2 (XLP2)
  • inflammatory bowel disease
  • 300635
  • splenomegaly
  • Diseases of Immune Dysregulation
  • X-linked lymphoproliferative syndrome (XLP)
  • haemophagocytic lymphohistiocytosis
  • Lymphoproliferative syndrome, X-linked, 2
  • EBV infection, Splenomegaly, lymphoproliferation, HLH, Colitis, IBD, hepatitis, Low iNKT cells, hypogammaglobulinemia
OMIM
300079
Clinvar variants
Variants in XIAP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: XIAP was added gene: XIAP was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: XIAP was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: XIAP were set to 25943627; 21119115; 17080092; 21173700; 22228567 Phenotypes for gene: XIAP were set to Lymphoproliferative syndrome, X-linked, 2 (XLP2); inflammatory bowel disease; 300635; splenomegaly; Diseases of Immune Dysregulation; X-linked lymphoproliferative syndrome (XLP); haemophagocytic lymphohistiocytosis; Lymphoproliferative syndrome, X-linked, 2; EBV infection, Splenomegaly, lymphoproliferation, HLH, Colitis, IBD, hepatitis, Low iNKT cells, hypogammaglobulinemia