Atypical haemolytic uraemic syndrome
Gene: CFHR1

CFHR1 (complement factor H related 1)
EnsemblGeneIds (GRCh38): ENSG00000244414
EnsemblGeneIds (GRCh37): ENSG00000244414
OMIM: 134371, Gene2Phenotype
CFHR1 is in 4 panels

2 reviews

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Valerie Wilson, The National Renal Complement Therapeutics Centre, February 2019 on behalf of Yorkshire and North East GLH for the GMS Renal Specialist Test Group; Gene Symbol submitted: CFHR1; Suggested initial gene rating: none provided;
Created: 12 Feb 2019, 12:40 p.m.

Created: 12 Feb 2019, 12:40 p.m.

Panel version: 1.7

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Numerous reports of CFHR1/CFHR3 deletion in 2 independent European cohorts (see publications)
Created: 15 Aug 2016, 10:43 a.m.

Comment on phenotypes: Also associated with Macular degeneration, age-related, reduced risk of 603075
Created: 15 Aug 2016, 10:41 a.m.

Numerous reports of CFHR1/CFHR3 deletion in 2 independent European cohorts
Created: 15 Aug 2016, 10:40 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hemolytic uremic syndrome, atypical, susceptibility to 235400

Publications

Created: 15 Aug 2016, 10:40 a.m.

Panel version: 0.18

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
UKGTN

Phenotypes

Hemolytic uremic syndrome, atypical, susceptibility to 235400

OMIM

134371

Clinvar variants

Variants in CFHR1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

12 Feb 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to CFHR1. Rating Changed from Green List (high evidence) to Green List (high evidence)

17 Aug 2016, Gel status: 4