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  2. Newborns additional phenotypes panel 1
  3. CFH
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Newborns additional phenotypes panel 1

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: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.29
Created: 1 Jun 2023, 2:40 p.m.
Last Modified: 1 Jun 2023, 2:40 p.m.
Panel version: 0.29

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 1, autosomal recessive
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 recessive

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

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to CFH. Mode of inheritance for gene CFH was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 1 for gene: CFH Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

31 May 2023, Gel status: 1

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 1. Sources: Expert Review Red Mode of inheritance for gene: CFH was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: CFH were set to Hemolytic uremic syndrome, atypical, susceptibility to, 1