1. Genes and Genomic Entities
  2. CD40

CD40

CD40 molecule
OMIM: 109535, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red CD40 in Familial Meniere Disease

Level 3: Other hearing and ear disorders
Level 2: Hearing and ear disorders
Version 1.3

review Not set
Sources
  • Literature
Green CD40 in COVID-19 research


Level 2: Viral research
Version 1.141

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • London North GLH
  • GOSH PID v.8.0
  • NHS GMS
  • GRID V2.0
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
  • GOSH PID v.8.0
Phenotypes
  • Immunodeficiency with hyper-IgM, type 3
  • Hyper-IgM syndrome due to CD40 deficiency
  • non-X-linked hyper IgM syndrome
  • Immunodeficiencies affecting cellular and humoral immunity
  • HIGM3
  • CD40 deficiency
  • Neutropenia, opportunistic infections, gastrointestinal and biliary tract and liver disease, Cryptosporidium infections
  • CSR defects and Hyper IgM (HIGM) syndromes
Green CD40 in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 4.201
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • ESID Registry 20171117
  • GRID V2.0
  • GOSH PID v.8.0
Phenotypes
  • Immunodeficiency with hyper-IgM, type 3
  • HIGM3
  • CD40 deficiency
  • CSR defects and Hyper IgM (HIGM) syndromes
  • Hyper-IgM syndrome due to CD40 deficiency
  • non-X-linked hyper IgM syndrome
  • Neutropenia, opportunistic infections, gastrointestinal and biliary tract and liver disease, Cryptosporidium infections
  • Immunodeficiencies affecting cellular and humoral immunity
Red CD40 in Cytopenia - NOT Fanconi anaemia


Version 3.32
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
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 with hyper-IgM, type 3, 606843
Green CD40 in Severe Paediatric Disorders


Version 1.184

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Immunodeficiency with hyper-IgM, type 3, 606843