CD40LG

CD40 ligand
OMIM: 300386, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green CD40LG in Infantile enterocolitis & monogenic inflammatory bowel disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.45	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Emory Genetics Laboratory UKGTN Radboud University Medical Center, Nijmegen Expert list Phenotypes Immunodeficiency, X-linked, with hyper-IgM 308230
Green CD40LG in Gastrointestinal epithelial barrier disorders Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.76	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Emory Genetics Laboratory Phenotypes Early Onset Inflammatory Bowel Disease Immunodeficiency, X-linked, with hyper-IgM 308230
Green CD40LG in COVID-19 research Level 2: Viral research Version 1.146	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources IUIS Classification February 2018 London North GLH GOSH PID v.8.0 NHS GMS GRID V2.0 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 GOSH PID v.8.0 Phenotypes Hyper-IGM immunodeficiency, X-linked HIGM Hyper-IGM syndrome Hyper-IgM syndrome type 1 Neutropenia, thrombocytopenia, hemolytic anemia, opportunistic infections, biliary tract and liver disease, Cryptosporidium infections XHIM Immunodeficiency, X-linked, with hyper-IgM Immunodeficiencies affecting cellular and humoral immunity Hyper-IgM syndrome due to CD40 ligand deficiency Hyper-IgM syndrome due to CD40L deficiency IHIS HIGM1 IMD3 CSR defects and Hyper IgM (HIGM) syndromes Immunodeficiency 3 CD40 ligand deficiency
Green CD40LG in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Other NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 GOSH PID v.8.0 Phenotypes Immunodeficiency, X-linked, with hyper-IgM CD40 ligand deficiency CSR defects and Hyper IgM (HIGM) syndromes Hyper-IGM immunodeficiency, X-linked XHIM Hyper-IGM syndrome HIGM IHIS Immunodeficiency 3 IMD3 Hyper-IgM syndrome due to CD40 ligand deficiency Hyper-IgM syndrome due to CD40L deficiency Hyper-IgM syndrome type 1 HIGM1 Neutropenia, thrombocytopenia, hemolytic anemia, opportunistic infections, biliary tract and liver disease, Cryptosporidium infections Immunodeficiencies affecting cellular and humoral immunity
Red CD40LG in Cytopenia - NOT Fanconi anaemia Level 2: Haematology Version 4.32 Latest signed off version: v4.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Expert review Red NHS GMS North West GLH London South GLH Yorkshire and North East GLH Wessex and West Midlands GLH Phenotypes Immunodeficiency, X-linked, with hyper-IgM, 308230
Amber CD40LG in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber NHS GMS Phenotypes Immunodeficiency, X-linked, with hyper-IgM, OMIM:308230