CXCR4

C-X-C motif chemokine receptor 4
OMIM: 162643, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green CXCR4 in COVID-19 research


Level 2: Viral research
Version 1.141

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Immunology Flagship
  • 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
  • Myelokathexis, isolated
  • Warts hypogammaglobulinemia infections and myelokathexis (WHIM)
  • WHIM syndrome, 193670
  • WHIM syndrome
  • Warts (HPV) infection, neutropenia, low B cell number, hypogammaglobulinemia
  • Defects in Intrinsic and Innate Immunity
Green CXCR4 in Primary immunodeficiency or monogenic inflammatory bowel disease


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

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
  • WHIM syndrome, 193670
  • Myelokathexis, isolated
  • WHIM syndrome
  • Warts hypogammaglobulinemia infections and myelokathexis (WHIM)
  • Warts (HPV) infection, neutropenia, low B cell number, hypogammaglobulinemia
  • Defects in Intrinsic and Innate Immunity
Green CXCR4 in Cytopenias and congenital anaemias

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

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • WHIM syndrome, 193670
  • Warts, hypogammaglobulinemia, infections, and myelokathexis, Myelokathexis, isolated
  • Severe congenital neutropenia
Green CXCR4 in Cytopenia - NOT Fanconi anaemia


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

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Warts, hypogammaglobulinemia, infections, and myelokathexis, Myelokathexis, isolated
  • 193670 WHIM syndrome
  • WHIM syndrome, 193670
  • Severe congenital neutropenia
Green CXCR4 in Severe Paediatric Disorders


Version 1.184

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Myelokathexis, isolated
  • WHIM syndrome, 193670