Genomics England
GMS Panels
Panels
Genes and Entities

LRBA

LPS responsive beige-like anchor protein
OMIM: 606453
PanelMode of inheritanceDetails
3 panels
Green
in Intestinal failure or congenital diarrhoea
R-numbers: R331
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency, common variable, 8, with autoimmunity, OMIM:614700
Green
in Neonatal diabetes
R-numbers: R143
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency, common variable, 8, with autoimmunity, OMIM:614700, IPEX-like syndrome, Neonatal diabetes and additional autoimmunity
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency, common variable, 8, with autoimmunity, 614700, Unclassified antibody deficiency, Recurrent infections, inflammatory bowel disease, autoimmunity, EBV infections, Diseases of Immune Dysregulation