1. Panels
  2. Renal and urinary tract disorders
  3. CFH
STRs in panel
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Renal and urinary tract disorders

Gene: CFH

Green List (high evidence)
CFH (complement factor H)
EnsemblGeneIds (GRCh38): ENSG00000000971
EnsemblGeneIds (GRCh37): ENSG00000000971
OMIM: 134370, Gene2Phenotype
CFH is in 6 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Numerous variants reported
Created: 4 Aug 2016, 11:17 a.m.
Comment on phenotypes: Also associated with Basal laminar drusen 126700 and {Macular degeneration, age-related, 4} 610698
Created: 4 Aug 2016, 11:17 a.m.
Comment on list classification: Tier 1 gene for Primary Membranoproliferative Glomeruloneprhistis in BRIDGE Study
Created: 5 Jul 2016, 10:05 a.m.
Created: 5 Jul 2016, 10:05 a.m.

Panel version: Imported from End-stage renal disease - childhood onset panel version 0.132

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Complement factor H deficiency 609814
  • {Hemolytic uremic syndrome, atypical, susceptibility to, 1} 235400
OMIM
134370
Clinvar variants
Variants in CFH
Penetrance
None
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Sarah Leigh: Comment on list classification

30 Jan 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: CFH were changed from Complement factor H deficiency 609814; {Hemolytic uremic syndrome, atypical, susceptibility to, 1} to Complement factor H deficiency 609814; {Hemolytic uremic syndrome, atypical, susceptibility to, 1} 235400

20 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: CFH was added gene: CFH was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: CFH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CFH were set to Complement factor H deficiency 609814; {Hemolytic uremic syndrome, atypical, susceptibility to, 1}