Monogenic diabetes
Gene: LRBAEnsemblGeneIds (GRCh38): ENSG00000198589
EnsemblGeneIds (GRCh37): ENSG00000198589
OMIM: 606453, Gene2Phenotype
LRBA is in 12 panels
3 reviews
Ivone Leong (Genomics England Curator)
Gene changed to grey status after consultation with Professor Sian Ellard (South West GLH) that this gene is not appropriate for the panel.Created: 25 Jan 2019, 11:49 a.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene added to the panel as green due to expert review.Created: 15 Jun 2016, 3:30 p.m.
Sian Ellard (University of Exeter Medical School)
Variants in this gene are reported as part of current diagnostic practiceCreated: 16 Oct 2015, 10:36 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- Phenotypes
-
- Immunodeficiency, common variable, 8, with autoimmunity
- Tags
- 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
- 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
- Monogenic diabetes
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: LRBA.
Panel promoted to version 1.0
Ivone Leong (Genomics England Curator)Ivone Leong: Gene changed to grey status af
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Removed was added to LRBA. Rating Changed from Green List (high evidence) to No List (delete)
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Immunodeficiency, common variable, 8, with autoimmunity for gene: LRBA
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: LRBA was added gene: LRBA was added to Monogenic diabetes. Sources: Expert Review Green Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRBA were set to 25468195; 25479458; 26745254; 26206937; 27057999 Phenotypes for gene: LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity