VPS45

vacuolar protein sorting 45 homolog
OMIM: 610035
PanelMode of inheritanceDetails
2 panels
R-numbers: R91
Signed-off version 1.29
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
615285 Neutropenia, severe congenital, 5, VPS45 deficiency, Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome, Neutropenia, severe congenital, 5, autosomal recessive, 615285, 615285 Neutropenia, severe congenital, 5, autosomal recessive, Severe congenital neutropenia
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neutropenia, severe congenital, 5, autosomal recessive, 615285, Neutropenia, severe congenital 5, VPS45 deficiency (SCN5), Extramedullary hematopoiesis, bone marrow fibrosis, nephromegaly, Congenital defects of phagocyte number or function