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Gastrointestinal epithelial barrier disorders

Gene: XIAP

Green List (high evidence)
XIAP (X-linked inhibitor of apoptosis)
EnsemblGeneIds (GRCh38): ENSG00000101966
EnsemblGeneIds (GRCh37): ENSG00000101966
OMIM: 300079, Gene2Phenotype
XIAP is in 7 panels

4 reviews

Ivone Leong (Genomics England Curator)

Evidence for female carriers with disease (PMID:32686289; 25943627; 24942515; 29501442)
Created: 18 Oct 2021, 2:29 p.m. | Last Modified: 18 Oct 2021, 2:29 p.m.
Panel Version: 1.60

Publications

Created: 18 Oct 2021, 2:29 p.m.
Last Modified: 18 Oct 2021, 2:29 p.m.
Panel version: 1.60

Olivia Niblock (Genomics England Curator)

Comment on list classification: Previous curation and expert review suggests that variants in this gene are linked to gastrointestinal epithelial barrier phenotypes. Therefore, this gene will be promoted to green.
Created: 26 Jul 2018, 11:16 a.m.
Created: 26 Jul 2018, 11:16 a.m.

Panel version: 1.28

Neil shah (GOSH)

Green List (high evidence)

Created: 12 Oct 2016, 7:31 a.m.

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 0.122

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM, not in G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel and Emory Genetics Laboratory Early Onset Inflammatory Bowel Disease: Sequencing Panel. Five variants reported as X-linked hemizygotes
Created: 5 Sep 2016, 9:38 a.m.
Created: 5 Sep 2016, 9:38 a.m.

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 0.76

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
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Inflammatory Bowel Disease (Very Early Onset)
  • Lymphoproliferative syndrome, X-linked, 2 300635
OMIM
300079
Clinvar variants
Variants in XIAP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Oct 2021, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: XIAP were set to 21173700; 17080092; 27537055

26 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

Gene: xiap has been classified as Green List (High Evidence).

25 Jul 2018, Gel status: 2

Panel promoted to version 1.0

Olivia Niblock (Genomics England Curator)

Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018

17 Apr 2018, Gel status: 2

Set penetrance, Set publications

Olivia Niblock (Genomics England Curator)

Phenotypes for gene XIAP were set to Early Onset Inflammatory Bowel Disease, Inflammatory Bowel Disease (Very Early Onset), Lymphoproliferative syndrome, X-linked, 2 300635 Publications for gene XIAP was set to ['21173700', '17080092', '27537055']

17 Apr 2018, Gel status: 2

Set mode of inheritance, Set penetrance, Set publications

Olivia Niblock (Genomics England Curator)

Model 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) Phenotypes for gene XIAP were set to Early Onset Inflammatory Bowel Disease, Inflammatory Bowel Disease (Very Early Onset), Lymphoproliferative syndrome, X-linked, 2 300635 Publications for gene XIAP was set to ['21173700', '17080092', '27537055 - pathogenic variant in this gene reported in a patient using whole exome sequencing screening in 147 pediatric patients with monogenic Inflammatory Bowel Disease.']

17 Apr 2018, Gel status: 2

Added New Source, Set penetrance

Olivia Niblock (Genomics England Curator)

UKGTN was added to XIAP. Panel: Gastrointestinal epithelial barrier disorders Phenotypes for gene XIAP were set to Early Onset Inflammatory Bowel Disease, Inflammatory Bowel Disease (Very Early Onset)

17 Apr 2018, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

XIAP was added to Gastrointestinal epithelial barrier disorders panel. Sources: Emory Genetics Laboratory

17 Apr 2018, Gel status: 1

Created

Olivia Niblock (Genomics England Curator)

XIAP was created by Olivia Niblock