Phagocyte Defects
Gene: VPS45
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
Tag treatable tag was added to gene: VPS45.
Gene: vps45 has been classified as Green List (High Evidence).
Phenotypes for gene: VPS45 were changed from to Neutropaenia, severe congenital, 5, autosomal recessive, MIM# 615285
Publications for gene: VPS45 were set to
Mode of inheritance for gene: VPS45 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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