CSF3R

colony stimulating factor 3 receptor
OMIM: 138971, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green CSF3R in COVID-19 research


Level 2: Viral research
Version 1.130

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • Congenital neutropaenia v1.22
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
  • Congenital neutropaenia v1.22
Phenotypes
  • Congenital neutropenia
  • Congenital defects of phagocyte number or function
  • Neutropenia, severe congenital 7
  • N/A
  • Neutropenia, severe congenital, 7, autosomal recessive, 617014

Green CSF3R in Primary immunodeficiency


Version 2.573
Latest signed off version: v2.1 (24 Feb 2020)

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
  • ESID Registry 20171117
  • GRID V2.0
  • Congenital neutropaenia v1.22
Phenotypes
  • Neutropenia, severe congenital, 7, autosomal recessive, 617014
  • Neutropenia, severe congenital 7
  • Congenital neutropenia
  • N/A
  • Congenital defects of phagocyte number or function

Green CSF3R in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.106

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Literature
Phenotypes
  • Severe congenital neutropenia
  • Neutropenia, severe congenital, 7, autosomal recessive 617014

Red CSF3R in Haematological malignancies cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 2.34
Latest signed off version: v2.2 (18 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Acute myeloid leukaemia
  • Hereditary neutrophilia
  • Neutropenia, severe congenital, 7, autosomal recessive, OMIM:617014
Tags
  • somatic

Green CSF3R in Cytopenia - NOT Fanconi anaemia


Version 1.70
Latest signed off version: v1.29 (15 Oct 2020)

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
  • Neutropenia, severe congenital, 7, autosomal recessive, 617014
  • 617014 Neutropenia, severe congenital, 7
  • 617014 Neutropenia, severe congenital, 7, autosomal recessive
  • Severe congenital neutropenia

Green CSF3R in Severe Paediatric Disorders


Version 1.127

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Neutropenia, severe congenital, 7, autosomal recessive, 617014