CD40

CD40 molecule
OMIM: 109535, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green CD40 in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency with hyper-IgM, type 3, MIM# 606843
Tags
  • treatable

Green CD40 in Combined Immunodeficiency


Level 2: Immunological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Immunodeficiency with hyper-IgM, type 3, MIM# 606843
Tags
  • treatable

Green CD40 in Immune_markers_WTS_UMCCR


Level 2: Cancer
Version 1.0

0 reviews Unknown
Sources
  • Expert list
  • Expert Review Green
Tags
  • umccr

Green CD40 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency with hyper-IgM, type 3, 606843 (3)

Green CD40 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency with hyper-IgM, type 3, 606843 (3)

Green CD40 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Immunodeficiency with hyper-IgM, type 3, MIM# 606843
Tags
  • treatable
  • immunological

Green CD40 in Prepair 500+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency with hyper-IgM, type 3, MIM# 606843