VPS45

vacuolar protein sorting 45 homolog
OMIM: 610035, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green VPS45 in COVID-19 research


Level 2: Viral research
Version 1.141

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • Congenital neutropaenia v1.22
  • North West GLH
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • GRID V2.0
  • Congenital neutropaenia v1.22
Phenotypes
  • VPS45 deficiency (SCN5)
  • Neutropenia, severe congenital 5
  • Congenital defects of phagocyte number or function
  • Extramedullary hematopoiesis, bone marrow fibrosis, nephromegaly
  • Neutropenia, severe congenital, 5, autosomal recessive, 615285
Green VPS45 in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 4.197
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • GRID V2.0
  • Congenital neutropaenia v1.22
Phenotypes
  • Neutropenia, severe congenital, 5, autosomal recessive, 615285
  • Neutropenia, severe congenital 5
  • VPS45 deficiency (SCN5)
  • Extramedullary hematopoiesis, bone marrow fibrosis, nephromegaly
  • Congenital defects of phagocyte number or function
Green VPS45 in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neutropenia, severe congenital, 5, autosomal recessive, 615285
  • Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome
  • VPS45 deficiency
  • Severe congenital neutropenia
Tags
  • missense
Green VPS45 in Cytopenia - NOT Fanconi anaemia


Version 3.27
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • 615285 Neutropenia, severe congenital, 5
  • VPS45 deficiency
  • Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome
  • Neutropenia, severe congenital, 5, autosomal recessive, 615285
  • 615285 Neutropenia, severe congenital, 5, autosomal recessive
  • Severe congenital neutropenia
Green VPS45 in Severe Paediatric Disorders


Version 1.184

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Neutropenia, severe congenital, 5, autosomal recessive, 615285