Congenital neutropaenia

Gene: VPS45

Green List (high evidence)

VPS45 (vacuolar protein sorting 45 homolog)
EnsemblGeneIds (GRCh38): ENSG00000136631
EnsemblGeneIds (GRCh37): ENSG00000136631
OMIM: 610035, Gene2Phenotype
VPS45 is in 6 panels

3 reviews

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Found associated with phenotype in OMIM and not in G2P. Two expert reviewers recommend Green. Found in 1/4 sources. Literature reports two variants in >2 consanguineous Palestinian families
Created: 25 May 2016, 8:26 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neutropenia, severe congenital, 5, autosomal recessive, 615285
OMIM
610035
Clinvar variants
Variants in VPS45
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

8 Jun 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for VPS45 were set to Neutropenia, severe congenital, 5, autosomal recessive, 615285

26 May 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

VPS45 was added to Congenital neutropaeniapanel. Sources: Literature

25 May 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 May 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

25 May 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene VPS45 were set to Neutropenia,severe congenital,5, autosomal recessive,615285

25 May 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene VPS45 were set to Neutropenia,severe congenital,5, autosomal recessive,615285

25 May 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene VPS45 were set to Neutropenia,severe congenital,5, autosomal recessive,615285

25 May 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene VPS45 were set to Neutropenia,severe congenital,5, autosomal recessive,615285

25 May 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene VPS45 was set to BIALLELIC, autosomal or pseudoautosomal

25 May 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene VPS45 were set to Neutropenia,severecongenital,5,autosomalrecessive,615285

30 Sep 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

VPS45 was added to Congenital neutropaeniapanel. Source: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

VPS45 was added to Congenital neutropaeniapanel. Sources: Radboud University Medical Center, Nijmegen