Familial diabetes
Gene: LRBA
LRBA (LPS responsive beige-like anchor protein)
EnsemblGeneIds (GRCh38): ENSG00000198589
EnsemblGeneIds (GRCh37): ENSG00000198589
OMIM: 606453, Gene2Phenotype
LRBA is in 12 panels
EnsemblGeneIds (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 Green
- Phenotypes
-
- Immunodeficiency, common variable, 8, with autoimmunity
- 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
- 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
11 Feb 2021, Gel status: 3
Clear Sources
Eleanor Williams (Genomics England Curator)Source: Expert Review Removed was removed from gene: LRBA
27 Jun 2016, Gel status: 4
Set publications
Ellen McDonagh (Genomics England Curator)Publications for LRBA were set to 25468195; 26206937; 26745254; 27057999; 25479458
27 Jun 2016, Gel status: 4
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity
27 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
15 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
16 Oct 2015, Gel status: 0
Added New Source
Sian Ellard (University of Exeter Medical School)LRBA was added to Familial diabetespanel. Sources: Expert Review