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Mackenzie's Mission_Reproductive Carrier Screening

Gene: CFP

Green List (high evidence)

CFP (complement factor properdin)
EnsemblGeneIds (GRCh38): ENSG00000126759
EnsemblGeneIds (GRCh37): ENSG00000126759
OMIM: 300383, Gene2Phenotype
CFP is in 7 panels

0 reviews

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Properdin deficiency, X-linked, 312060 (3)
OMIM
300383
Clinvar variants
Variants in CFP
Penetrance
None
Panels with this gene

History Filter Activity

19 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CFP was added gene: CFP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CFP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CFP were set to Properdin deficiency, X-linked, 312060 (3)