Atypical haemolytic uraemic syndrome
Gene: CFH
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: CFH; Suggested initial gene rating: none provided;Created: 12 Feb 2019, 12:40 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least nine variants reportedCreated: 15 Aug 2016, 10:59 a.m.
Comment on phenotypes: Variants also reported in Basal laminar drusen 126700, Complement factor H deficiency 609814 and Macular degeneration, age-related, 4 610698Created: 15 Aug 2016, 10:57 a.m.
Source NHS GMS was added to CFH. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted 17/08/2016
Publications for CFH were set to 26826462
This gene has been classified as Green List (High Evidence).
Mode of inheritance for CFH was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for CFH were set to Hemolytic uremic syndrome, atypical, susceptibility to, 1 235400
Mode of inheritance for CFH was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene CFH were set to Atypical Hemolytic-Uremic Syndrome; {Hemolytic uremic syndrome, atypical, susceptibility to, 1}, 235400; Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Phenotypes for gene CFH were set to {Hemolytic uremic syndrome, atypical, susceptibility to, 1}, 235400; Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
CFH was added to Atypical haemolytic uraemic syndromepanel. Source: UKGTN
CFH was added to Atypical haemolytic uraemic syndromepanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene CFH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
CFH was added to Atypical haemolytic uraemic syndromepanel. Source: Radboud University Medical Center, Nijmegen
CFH was added to Atypical haemolytic uraemic syndromepanel. Sources: Eligibility statement prior genetic testing
CFH was created by ellenmcdonagh