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  2. Congenital neutropaenia
  3. VPS45
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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 4 panels

3 reviews

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 5 Nov 2017, 2:38 a.m.

Panel version: 0

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

Created: 5 Nov 2017, 2:38 a.m.

Panel version: 0

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.
Created: 25 May 2016, 8:26 a.m.

Panel version: 0.43

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