Genomics England
GMS Panels
Panels
Genes and Entities

LAMTOR2

late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
OMIM: 610389
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency due to defect in MAPBP-interacting protein, 610798, Congenital neutropenia, Primary immunodeficiency syndrome due to p14 deficiency, Neutropenia, Hypogammaglobulinemia CD8 cytotoxicity, partial albinism, growth failure, Congenital defects of phagocyte number or function