Gastrointestinal epithelial barrier disorders
Gene: LRBAEnsemblGeneIds (GRCh38): ENSG00000198589
EnsemblGeneIds (GRCh37): ENSG00000198589
OMIM: 606453, Gene2Phenotype
LRBA is in 12 panels
3 reviews
Olivia Niblock (Genomics England Curator)
Comment when marking as ready: This gene is being marked as ready, having been reviewed internally by the clinical team, by the curation team and by the expert reviewer. 25/07/2018Created: 25 Jul 2018, 4:22 p.m.
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
-
- Expert Review Amber
- UKGTN
- Emory Genetics Laboratory
- Phenotypes
-
- Early Onset Inflammatory Bowel Disease
- Inflammatory Bowel Disease (Very Early Onset)
- Immunodeficiency, common variable, 8, with autoimmunity (CVID 8) 614700
- OMIM
- 606453
- Clinvar variants
- Variants in LRBA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Multi-organ autoimmune diabetes
- Monogenic diabetes
- Intestinal failure or congenital diarrhoea
- Fetal anomalies
- Gastrointestinal epithelial barrier disorders
- COVID-19 research
- Familial diabetes
- Neonatal diabetes
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
History Filter Activity
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
Entity classified by Genomics England curator
Olivia Niblock (Genomics England Curator)Gene: lrba has been classified as Amber List (Moderate Evidence).
Set mode of inheritance, Set penetrance, Set publications
Olivia Niblock (Genomics England Curator)Model of inheritance for gene LRBA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene LRBA were set to Early Onset Inflammatory Bowel Disease, Inflammatory Bowel Disease (Very Early Onset), Immunodeficiency, common variable, 8, with autoimmunity (CVID 8) 614700 Publications for gene LRBA was set to ['27302973']
Added New Source, Set penetrance
Olivia Niblock (Genomics England Curator)UKGTN was added to LRBA. Panel: Gastrointestinal epithelial barrier disorders Phenotypes for gene LRBA were set to Early Onset Inflammatory Bowel Disease, Inflammatory Bowel Disease (Very Early Onset)
Added New Source
Olivia Niblock (Genomics England Curator)LRBA was added to Gastrointestinal epithelial barrier disorders panel. Sources: Emory Genetics Laboratory
Created
Olivia Niblock (Genomics England Curator)LRBA was created by Olivia Niblock