This Panel is marked as Internal
DEMO Diabetes neonatal onset
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
5 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: LRBA; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Neonatal diabetes and additional autoimmunity.Created: 11 Jan 2019, 4:27 p.m.
Sian Ellard (University of Exeter Medical School)
Rebecca Foulger (Genomics England curator)
Comment when marking as ready: Marked as Ready: 25th May 2017.Created: 25 May 2017, 9:19 a.m.
Comment on list classification: Updated rating from Grey to Green. LRBA gene added by Sian Ellard during panel review. >3 unrelated cases of LRBA causing neonatal diabetes, plus part of Exeter neonatal diabetes screen.Created: 25 May 2017, 9:18 a.m.
Elisa De-Franco (University of Exeter Medical School) notes that LRBA has now been established as a cause of neonatal diabetes and additional autoimmune features in 9 families (PMID:28473463, Johnson et al., 2017).Created: 25 May 2017, 9:17 a.m.
PMID:26745254 (Schreiner et al 2016) report 2 Libyan siblings from consanguineous parents. Both patients had type-1 diabetes mellitus diagnosed during infancy and a truncating mutation in LRBA.Created: 27 Apr 2017, 3:03 p.m.
PMID:25468195 (Charbonnier et al 2015) report a boy who presented with an IPEX-like syndrome and a nonsense mutation in LRBA. He was diagnosed with type I diabetes in infancy.Created: 27 Apr 2017, 3:02 p.m.
Comment on phenotypes: Phenotypes taken from Exeter neonatal diabetes screen gene information.Created: 27 Apr 2017, 3:02 p.m.
Comment on mode of inheritance: Mode of inheritance confirmed by Exeter neonatal diabetes screen.Created: 27 Apr 2017, 3:01 p.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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review
- NHS GMS
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Immunodysregulation and type 1 diabetes
- Immunodeficiency, common variable, 8, with autoimmunity, 614700
- IPEX-like syndrome
- Neonatal diabetes and additional autoimmunity
- OMIM
- 606453
- Clinvar variants
- Variants in LRBA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Familial diabetes
- Multi-organ autoimmune diabetes
- Neonatal diabetes
- Monogenic diabetes
- COVID-19 research
- Intestinal failure or congenital diarrhoea
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- DDG2P
- Gastrointestinal epithelial barrier disorders
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
History Filter Activity
2 Dec 2019, Gel status: 3
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 DEMO Diabetes - neonatal onset. Sources: Expert Review Green,NHS GMS,Expert Review Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRBA were set to 25468195; 28473463; 26745254 Phenotypes for gene: LRBA were set to Immunodysregulation and type 1 diabetes; Immunodeficiency, common variable, 8, with autoimmunity, 614700; IPEX-like syndrome; Neonatal diabetes and additional autoimmunity