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Mendeliome

Gene: CFHR5

Green List (high evidence)

CFHR5 (complement factor H related 5)
EnsemblGeneIds (GRCh38): ENSG00000134389
EnsemblGeneIds (GRCh37): ENSG00000134389
OMIM: 608593, Gene2Phenotype
CFHR5 is in 7 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Review provided by Danny Gale (UCL):

4 independent mutations described in >30 families (most with one mutation that is endemic in people of Cypriot ancestry) causing haematuria and C3 glomerulopathy. Pathogenic mutations result in duplications of exons 2 and 3 of CFHR5, or a CFHR5-CFHR2 hybrid elongated gene to be produced. Other mutations (eg missense or truncating mutations) have NOT been robustly linked with disease and are probably not pathogenic: the disease is caused by a gain-of-function mechanism.

Progressive condition, haematuria may manifest after infections.
Created: 19 Apr 2022, 2:44 a.m. | Last Modified: 19 Apr 2022, 2:44 a.m.
Panel Version: 0.13059

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Nephropathy due to CFHR5 deficiency, MIM#614809

Publications

Variants in this GENE are reported as part of current diagnostic practice

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

19 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: cfhr5 has been classified as Green List (High Evidence).

19 Apr 2022, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: CFHR5 were changed from to Nephropathy due to CFHR5 deficiency, MIM#614809

19 Apr 2022, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: CFHR5 were set to

19 Apr 2022, Gel status: 3

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

Mode of inheritance for gene: CFHR5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CFHR5 was added gene: CFHR5 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CFHR5 was set to Unknown