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  2. Newborns additional phenotypes panel 3
  3. CFH
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Newborns additional phenotypes panel 3

Gene: CFH

Amber List (moderate evidence)
CFH (complement factor H)
EnsemblGeneIds (GRCh38): ENSG00000000971
EnsemblGeneIds (GRCh37): ENSG00000000971
OMIM: 134370, Gene2Phenotype
CFH is in 6 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 7 Jul 2023, 9:11 a.m. | Last Modified: 7 Jul 2023, 9:11 a.m.
Panel Version: 0.7
Created: 7 Jul 2023, 9:11 a.m.
Last Modified: 7 Jul 2023, 9:11 a.m.
Panel version: 0.7

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 1, autosomal dominant
OMIM
134370
Clinvar variants
Variants in CFH
Penetrance
None
Panels with this gene

History Filter Activity

6 Feb 2024, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CFH were changed from Hemolytic uremic syndrome, atypical, susceptibility to, 1 to Hemolytic uremic syndrome, atypical, susceptibility to, 1, autosomal dominant

14 Sep 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 1 for gene: CFH

5 Jul 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Mafalda Gomes (Genomics England Curator)

gene: CFH was added gene: CFH was added to Newborns additional phenotypes panel 3. Sources: Expert Review Amber Mode of inheritance for gene: CFH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CFH were set to Hemolytic uremic syndrome, atypical, susceptibility to, 1