Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: XIAPEnsemblGeneIds (GRCh38): ENSG00000101966
EnsemblGeneIds (GRCh37): ENSG00000101966
OMIM: 300079, Gene2Phenotype
XIAP is in 7 panels
3 reviews
Ivone Leong (Genomics England Curator)
Comment on publications: Previously: 27537055 - pathogenic variant in this gene reported in a patient using whole exome sequencing screening in 147 pediatric patients with monogenic Inflammatory Bowel DiseaseCreated: 18 Oct 2021, 2:29 p.m. | Last Modified: 18 Oct 2021, 2:29 p.m.
Panel Version: 1.23
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: 1.22
Publications
Neil shah (GOSH)
Sarah Leigh (Genomics England Curator)
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 hemizygotesCreated: 5 Sep 2016, 9:38 a.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
-
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Expert list
- Phenotypes
-
- Lymphoproliferative syndrome, X-linked, 2 300635
- OMIM
- 300079
- Clinvar variants
- Variants in XIAP
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Intellectual disability
- Intestinal failure or congenital diarrhoea
- Haemophagocytic syndrome with absent XIAP expression
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Gastrointestinal epithelial barrier disorders
- COVID-19 research
History Filter Activity
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: XIAP were 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; 32686289; 25943627; 24942515; 29501442
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: XIAP were 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.
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
Set publications
Ellen McDonagh (Genomics England Curator)Publications for XIAP were 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.
Set publications
Sarah Leigh (Genomics England Curator)Publications for XIAP were set to 21173700; 17080092; 27537055
Upload gene information
Sarah Leigh (Genomics England Curator)XIAP was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene XIAP were set to Lymphoproliferative syndrome, X-linked, 2 300635
Added New Source
Ellen McDonagh (Genomics England Curator)XIAP was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)XIAP was created by ellenmcdonagh