Phagocyte Defects

Gene: VPS45

Green List (high evidence)

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

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

History Filter Activity

9 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: VPS45.

28 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vps45 has been classified as Green List (High Evidence).

28 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: VPS45 were changed from to Neutropaenia, severe congenital, 5, autosomal recessive, MIM# 615285

28 Jul 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: VPS45 were set to

28 Jul 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: VPS45 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: VPS45 was added gene: VPS45 was added to Phagocyte defects_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: VPS45 was set to Unknown