VPS45

vacuolar protein sorting 45 homolog
OMIM: 610035, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green VPS45 in COVID-19 research Level 2: Viral research Version 1.146	review	BIALLELIC, autosomal or pseudoautosomal	Sources IUIS Classification February 2018 London North GLH NHS GMS GRID V2.0 Congenital neutropaenia v1.22 North West GLH Victorian Clinical Genetics Services Expert Review Green NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green GRID V2.0 Congenital neutropaenia v1.22 Phenotypes VPS45 deficiency (SCN5) Neutropenia, severe congenital 5 Congenital defects of phagocyte number or function Extramedullary hematopoiesis, bone marrow fibrosis, nephromegaly Neutropenia, severe congenital, 5, autosomal recessive, 615285
Green VPS45 in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green GRID V2.0 Congenital neutropaenia v1.22 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
Green VPS45 in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.123	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Neutropenia, severe congenital, 5, autosomal recessive, 615285 Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome VPS45 deficiency Severe congenital neutropenia Tags missense
Green VPS45 in Cytopenia - NOT Fanconi anaemia Level 2: Haematology Version 4.32 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources North West GLH Yorkshire and North East GLH London South GLH NHS GMS Expert Review Green Wessex and West Midlands GLH 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