CD40LG

CD40 ligand
OMIM: 300386, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green CD40LG in Vasculitis


Level 2: Immunological disorders
Version 0.82

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Red CD40LG in Cataract


Level 2: Ophthalmological disorders
Version 0.366

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency with Hyper-IgM type 1

Green CD40LG in Inflammatory bowel disease


Level 2: Gastroenterological disorders
Version 0.121

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green CD40LG in Mendeliome


    Version 1.1902

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Immunodeficiency, X-linked, with hyper-IgM MIM# 308230
    • Severe opportunistic infections (recurrent), idiopathic neutropaenia
    • dysgammaglobulinaemia hepatitis
    • cholangitis
    • cholangiocarcinoma
    • autoimmune blood cytopenias
    • haemolytic anaemia
    • thrombocytopaenia
    • diarrhoea
    • peripheral neuroectodermal tumours
    Tags
    • treatable

    Green CD40LG in Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 1.66

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Immunodeficiency, X-linked, with hyper-IgM MIM# 308230
    • Severe opportunistic infections (recurrent), idiopathic neutropaenia
    • dysgammaglobulinaemia hepatitis
    • cholangitis
    • cholangiocarcinoma
    • autoimmune blood cytopenias
    • haemolytic anaemia
    • thrombocytopaenia
    • diarrhoea
    • peripheral neuroectodermal tumours
    Tags
    • treatable

    Green CD40LG in Immune_markers_WTS_UMCCR


    Level 2: Cancer
    Version 0.75

    review Unknown
    Sources
    • Expert list
    • Expert Review Green
    Tags
    • umccr

    Green CD40LG in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Immunodeficiency, X-linked, with hyper-IgM, 308230 (3)

    Green CD40LG in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Immunodeficiency, X-linked, with hyper-IgM

    Green CD40LG in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Immunodeficiency, X-linked, with hyper-IgM, 308230 (3)

    Green CD40LG in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    Phenotypes
    • Immunodeficiency, X-linked, with hyper-IgM MIM# 308230
    Tags
    • treatable
    • immunological

    Green CD40LG in Prepair 500+


    Level 2: Screening
    Version 1.1

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Immunodeficiency, X-linked, with hyper-IgM, 308230 (3)