This Panel is marked as Deleted
Immunological disorders_SuperPanel_PanelAppAustralia
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
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Expert Review Green
- Phenotypes
-
- Recurrent infections
- Inflammatory bowel disease
- Immunodeficiency, common variable, 8, with autoimmunity, MIM#614700
- Autoimmunity
- EBV infections
- OMIM
- 606453
- Clinvar variants
- Variants in LRBA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Neonatal diabetes
- Familial diabetes
- Multi-organ autoimmune diabetes
- COVID-19 research
- Intestinal failure or congenital diarrhoea
- Fetal anomalies
- DDG2P
- Gastrointestinal epithelial barrier disorders
- Monogenic diabetes
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
History Filter Activity
7 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: LRBA was added gene: LRBA was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Expert Review Green,Expert list Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRBA were set to 25468195; 26206937; 22608502; 22721650 Phenotypes for gene: LRBA were set to Recurrent infections; Inflammatory bowel disease; Immunodeficiency, common variable, 8, with autoimmunity, MIM#614700; Autoimmunity; EBV infections