Phagocyte Defects
Gene: VPS45

VPS45 (vacuolar protein sorting 45 homolog)
EnsemblGeneIds (GRCh38): ENSG00000136631
EnsemblGeneIds (GRCh37): ENSG00000136631
OMIM: 610035, Gene2Phenotype
VPS45 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Severe congenital neutropaenia-5 is an autosomal recessive primary immunodeficiency disorder characterized primarily by neutropaenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis.

Multiple families reported.
Created: 28 Jul 2021, 4:17 a.m. | Last Modified: 28 Jul 2021, 4:17 a.m.

Panel Version: 0.123

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neutropaenia, severe congenital, 5, autosomal recessive, MIM# 615285

Publications

Created: 28 Jul 2021, 4:17 a.m.
Last Modified: 28 Jul 2021, 4:17 a.m.
Panel version: 0.123

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

Phenotypes

Neutropaenia, severe congenital, 5, autosomal recessive, MIM# 615285

Tags

treatable

OMIM

610035

Clinvar variants

Variants in VPS45

Penetrance

None

Publications

Panels with this gene