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Gene: VPS45

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

1 review

Lucy Spencer (Victorian Clinical Genetics Services)

Green List (high evidence)

OMIM: "Severe congenital neutropenia-5 is an autosomal recessive primary immunodeficiency disorder characterized primarily by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis (summary by Vilboux et al., 2013)." Onset is in infancy.

PMID: 30294941 "VPS45 deficiency is a hereditary disease characterised by severe congenital neutropenia (SCN) with bacterial and fungal infections, primary myelofibrosis (PMF) with extramedullary hematopoiesis including nephromegaly, bone marrow failure, defective cell migration, possible neurological impairment, and early death without hematopoietic stem cell transplantation (HSCT)."
Created: 13 Dec 2024, 4:27 a.m. | Last Modified: 13 Dec 2024, 4:27 a.m.

Panel Version: 1.784

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

30294941

Created: 13 Dec 2024, 4:27 a.m.
Last Modified: 13 Dec 2024, 4:27 a.m.
Panel version: 1.784

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Mackenzie's Mission

Phenotypes

Neutropenia, severe congenital, 5, autosomal recessive, 615285 (3)

OMIM

610035

Clinvar variants

Variants in VPS45

Penetrance

None

Panels with this gene

History Filter Activity

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Neutropenia, severe congenital, 5, autosomal recessive, 615285 (3) for gene: VPS45

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: VPS45 was added gene: VPS45 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: VPS45 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS45 were set to Neutropenia, severe congenital, 5, autosomal recessive, 615285 (3)

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