Multi-organ autoimmune diabetes
Gene: LRBAEnsemblGeneIds (GRCh38): ENSG00000198589
EnsemblGeneIds (GRCh37): ENSG00000198589
OMIM: 606453, Gene2Phenotype
LRBA is in 12 panels
2 reviews
Sian Ellard (University of Exeter Medical School)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene added by reviewer, and rated green. Promoted to green due to expert review.Created: 22 Jul 2016, 3:15 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- OMIM
- 606453
- Clinvar variants
- Variants in LRBA
- Penetrance
- Complete
- 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
Ellen McDonagh (Genomics England Curator)25th July 2016: Panel revised acccording to expert review, further evidence sources and comparison with the Familial Diabetes version 1 panel. Promoted to version 1.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for LRBA were set to 25468195; 26206937; 26745254; 27057999; 25479458
Created
Sian Ellard (University of Exeter Medical School)LRBA was created by Reviewer_08
Added New Source
Sian Ellard (University of Exeter Medical School)LRBA was added to Multi-organ autoimmune diabetespanel. Sources: Expert Review