Complement Deficiencies
Gene: CFP

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

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Established association
Created: 26 Apr 2022, 2:57 a.m. | Last Modified: 26 Apr 2022, 2:57 a.m.

Panel Version: 0.13292

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

Phenotypes
Properdin deficiency, X-linked MIM#312060

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 26 Apr 2022, 2:57 a.m.
Last Modified: 26 Apr 2022, 2:57 a.m.
Panel version: Imported from Mendeliome panel version 0.13292

Details

Mode of Inheritance

Unknown

Sources

Expert Review Green
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services
Expert Review Green

OMIM

300383

Clinvar variants

Variants in CFP

Penetrance

None

Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CFP was added gene: CFP was added to Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: CFP was set to Unknown

Complement Deficiencies Gene: CFP