Complement Deficiencies
Gene: CFD

CFD (complement factor D)
EnsemblGeneIds (GRCh38): ENSG00000197766
EnsemblGeneIds (GRCh37): ENSG00000197766
OMIM: 134350, Gene2Phenotype
CFD is in 6 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

3 families reported
Created: 19 Apr 2022, 12:50 a.m. | Last Modified: 19 Apr 2022, 12:50 a.m.

Panel Version: 0.13040

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Complement factor D deficiency MIM#613912

Publications

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

Created: 19 Apr 2022, 12:50 a.m.
Last Modified: 19 Apr 2022, 12:50 a.m.
Panel version: Imported from Mendeliome panel version 0.13040

Details

Mode of Inheritance

Unknown

Sources

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

OMIM

134350

Clinvar variants

Variants in CFD

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: CFD was added gene: CFD 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: CFD was set to Unknown

Complement Deficiencies Gene: CFD