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Prepair 1000+

Gene: CFP

Green List (high evidence)

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

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Well-established gene disease association.
Properdin deficiency is associated with increased susceptibility to severe meningococcal disease
Created: 7 Oct 2024, 5:51 a.m. | Last Modified: 7 Oct 2024, 5:51 a.m.
Panel Version: 1.390

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Properdin deficiency, X-linked (MIM#312060)

Publications

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
Publications
Panels with this gene

History Filter Activity

11 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cfp has been classified as Green List (High Evidence).

11 Oct 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CFP were set to

1 Jun 2022, 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 Reproductive Carrier Screen_VCGS. 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)