Genomics England
GMS Panels
Panels
Genes and Entities

VPS45

vacuolar protein sorting 45 homolog
OMIM: 610035
PanelMode of inheritanceDetails
2 panels
Green
in Cytopenia - NOT Fanconi anaemia
R-numbers: R91
Signed-off version 3.0
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
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 5.3
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