Congenital neutropaenia
Gene: VPS45
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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 familiesCreated: 25 May 2016, 8:26 a.m.
Phenotypes for VPS45 were set to Neutropenia, severe congenital, 5, autosomal recessive, 615285
VPS45 was added to Congenital neutropaeniapanel. Sources: Literature
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
Phenotypes for gene VPS45 were set to Neutropenia,severe congenital,5, autosomal recessive,615285
Phenotypes for gene VPS45 were set to Neutropenia,severe congenital,5, autosomal recessive,615285
Phenotypes for gene VPS45 were set to Neutropenia,severe congenital,5, autosomal recessive,615285
Phenotypes for gene VPS45 were set to Neutropenia,severe congenital,5, autosomal recessive,615285
Model of inheritance for gene VPS45 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene VPS45 were set to Neutropenia,severecongenital,5,autosomalrecessive,615285
VPS45 was added to Congenital neutropaeniapanel. Source: Radboud University Medical Center, Nijmegen
VPS45 was added to Congenital neutropaeniapanel. Sources: Radboud University Medical Center, Nijmegen