Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: LRBAEnsemblGeneIds (GRCh38): ENSG00000198589
EnsemblGeneIds (GRCh37): ENSG00000198589
OMIM: 606453, Gene2Phenotype
LRBA is in 13 panels
2 reviews
Neil shah (GOSH)
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM and G2P / DD (Probable). Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel and Emory Genetics Laboratory Early Onset Inflammatory Bowel Disease: Sequencing Panel. Six different homozygous variants reported.Created: 5 Sep 2016, 6:58 a.m.
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
- Phenotypes
-
- Immunodeficiency, common variable, 8, with autoimmunity (CVID 8) 614700
- OMIM
- 606453
- Clinvar variants
- Variants in LRBA
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Monogenic diabetes
- Childhood interstitial lung disease
- DDG2P
- Multi-organ autoimmune diabetes
- COVID-19 research
- Intestinal failure or congenital diarrhoea
- Gastrointestinal epithelial barrier disorders
- Fetal anomalies
- Familial diabetes
- Neonatal diabetes
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Primary immunodeficiency or monogenic inflammatory bowel disease
History Filter Activity
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.
Upload gene information
Sarah Leigh (Genomics England Curator)LRBA was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity (CVID 8) 614700
Created
Ellen McDonagh (Genomics England Curator)LRBA was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)LRBA was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list