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Kidneyome_SuperPanel_VCGS

Gene: CFHR5

Green List (high evidence)
CFHR5 (complement factor H related 5)
EnsemblGeneIds (GRCh38): ENSG00000134389
EnsemblGeneIds (GRCh37): ENSG00000134389
OMIM: 608593, Gene2Phenotype
CFHR5 is in 6 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephropathy due to CFHR5 deficiency, MIM#614809
OMIM
608593
Clinvar variants
Variants in CFHR5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jan 2020, Gel status: 3

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

Eleanor Williams (Genomics England Curator)

gene: CFHR5 was added gene: CFHR5 was added to Kidneyome_SuperPanel_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: CFHR5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CFHR5 were set to 30844074; 27490940; 21566112; 24067434; 24334459; 30197990; 20800271 Phenotypes for gene: CFHR5 were set to Nephropathy due to CFHR5 deficiency, MIM#614809