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Mendeliome

Gene: CFD

Green List (high evidence)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Complement factor D deficiency MIM#613912
OMIM
134350
Clinvar variants
Variants in CFD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

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

19 Apr 2022, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: CFD were changed from to Complement factor D deficiency MIM#613912

19 Apr 2022, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: CFD were set to

19 Apr 2022, Gel status: 3

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

Mode of inheritance for gene: CFD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

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 Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CFD was set to Unknown