Atypical haemolytic uraemic syndrome
Gene: CFHR1
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.
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 603075Created: 15 Aug 2016, 10:41 a.m.
Numerous reports of CFHR1/CFHR3 deletion in 2 independent European cohortsCreated: 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
Source NHS GMS was added to CFHR1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted 17/08/2016
This gene has been classified as Green List (High Evidence).
Phenotypes for CFHR1 were set to Hemolytic uremic syndrome, atypical, susceptibility to 235400
This gene has been classified as Green List (High Evidence).
CFHR1 was created by sleigh
CFHR1 was added to Atypical haemolytic uraemic syndromepanel. Sources: UKGTN