CXCR4

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

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 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 4.201 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 3.32 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