CFP

complement factor properdin
OMIM: 300383, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green CFP in Vasculitis


Level 2: Immunological disorders
Version 0.82

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

Green CFP 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
  • Properdin deficiency, X-linked MIM#312060

Green CFP in Complement Deficiencies


Level 2: Immunological disorders
Version 0.73

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review Unknown
    Sources
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green CFP 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
    • Properdin deficiency, X-linked, 312060 (3)

    Green CFP 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
    • Properdin deficiency, X-linked

    Green CFP 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
    • Properdin deficiency, X-linked, 312060 (3)

    Green CFP 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
    • BeginNGS
    Phenotypes
    • Properdin deficiency, X-linked, MIM#312060
    Tags
    • treatable
    • immunological