CFP

complement factor properdin
OMIM: 300383, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green CFP 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
  • 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
Phenotypes
  • Neisserial infections
  • Complement Deficiencies
  • Properdin deficiency
  • Properdin P factor complement deficiency (PFC)
Green CFP 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
  • 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
Phenotypes
  • Properdin deficiency
  • Properdin P factor complement deficiency (PFC)
  • Neisserial infections
  • Complement Deficiencies
Red CFP in Intellectual disability


Level 2: Developmental disorders
Version 9.285
Latest signed off version: v9.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    Phenotypes
    • Properdin deficiency, X-linked 312060