Atypical haemolytic uraemic syndrome
Gene: CFHEnsemblGeneIds (GRCh38): ENSG00000000971
EnsemblGeneIds (GRCh37): ENSG00000000971
OMIM: 134370, Gene2Phenotype
CFH is in 6 panels
4 reviews
Eleanor Williams (Genomics England Curator)
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.
Tim Goodship (Newcastle University)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Daniel Gale (UCL)
Sarah Leigh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Eligibility statement prior genetic testing
- Phenotypes
-
- Hemolytic uremic syndrome, atypical, susceptibility to, 1 235400
- OMIM
- 134370
- Clinvar variants
- Variants in CFH
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to CFH. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted 17/08/2016
Set publications
Sarah Leigh (Genomics England Curator)Publications for CFH were set to 26826462
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for CFH was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for CFH were set to Hemolytic uremic syndrome, atypical, susceptibility to, 1 235400
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for CFH was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Phenotypes
Ellen McDonagh (Genomics England Curator)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
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene CFH were set to {Hemolytic uremic syndrome, atypical, susceptibility to, 1}, 235400; Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Added New Source
Ellen McDonagh (Genomics England Curator)CFH was added to Atypical haemolytic uraemic syndromepanel. Source: UKGTN
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)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
Added New Source
Ellen McDonagh (Genomics England Curator)CFH was added to Atypical haemolytic uraemic syndromepanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)CFH was added to Atypical haemolytic uraemic syndromepanel. Sources: Eligibility statement prior genetic testing
Created
Ellen McDonagh (Genomics England Curator)CFH was created by ellenmcdonagh