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Newborns main panel

Gene: CFHR1

Amber List (moderate evidence)
CFHR1 (complement factor H related 1)
EnsemblGeneIds (GRCh38): ENSG00000244414
EnsemblGeneIds (GRCh37): ENSG00000244414
OMIM: 134371, Gene2Phenotype
CFHR1 is in 4 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
Created: 1 Jun 2023, 2:40 p.m.
Last Modified: 1 Jun 2023, 2:40 p.m.
Panel version: 0.137

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • CFHR1 associated susceptibility to atypical hemolytic uremic syndrome
OMIM
134371
Clinvar variants
Variants in CFHR1
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes CFHR1 associated susceptibility to atypical hemolytic uremic syndrome for gene: CFHR1

5 Jul 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to CFHR1. Added phenotypes CFHR1 associated susceptibility to atypical hemolytic uremic syndrome for gene: CFHR1 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

31 May 2023, Gel status: 1

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

Mafalda Gomes (Genomics England Curator)

Source Expert Review Red was added to CFHR1. Mode of inheritance for gene CFHR1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes CFHR1 associated susceptibility to atypical hemolytic uremic syndrome for gene: CFHR1 Rating Changed from No List (delete) to Red List (low evidence)

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: CFHR1 was added gene: CFHR1 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: CFHR1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal