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Kidneyome_SuperPanel_VCGS

Gene: CFH

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

0 reviews

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Complement factor H deficiency, MIM#609814
OMIM
134370
Clinvar variants
Variants in CFH
Penetrance
None
Panels with this gene

History Filter Activity

28 Jan 2020, Gel status: 3

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

Eleanor Williams (Genomics England Curator)

gene: CFH was added gene: CFH was added to Kidneyome_SuperPanel_VCGS. Sources: Victorian Clinical Genetics Services,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, MIM#609814