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Newborns main panel

Gene: CFD

Green List (high evidence)
CFD (complement factor D)
EnsemblGeneIds (GRCh38): ENSG00000197766
EnsemblGeneIds (GRCh37): ENSG00000197766
OMIM: 134350, Gene2Phenotype
CFD is in 2 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 16527897 - 1 family. PMID: 11457876 - 1 family PMID: 29522842 - 1 case PMID: 2687330 - 1 case
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Complement factor D deficiency
OMIM
134350
Clinvar variants
Variants in CFD
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Complement factor D deficiency for gene: CFD

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to CFD. Added phenotypes Complement factor D deficiency for gene: CFD Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to CFD. Added phenotypes Complement factor D deficiency for gene: CFD Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

15 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Complement factor D deficiency for gene: CFD

9 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to CFD. Added phenotypes Complement factor D deficiency for gene: CFD Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: CFD was added gene: CFD was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: CFD was set to BIALLELIC, autosomal or pseudoautosomal