Complement Deficiencies
Gene: CFHR5EnsemblGeneIds (GRCh38): ENSG00000134389
EnsemblGeneIds (GRCh37): ENSG00000134389
OMIM: 608593, Gene2Phenotype
CFHR5 is in 7 panels
2 reviews
Ain Roesley (Victorian Clinical Genetics Services)
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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Renal phenotype, gene is on the aHUS and Vasculitis panels, which are more appropriate.Created: 10 Apr 2020, 3:40 a.m. | Last Modified: 10 Apr 2020, 3:40 a.m.
Panel Version: 0.21
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Nephropathy due to CFHR5 deficiency, MIM# 614809
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- Expert Review Red
- Melbourne Genomics Health Alliance Immunology Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Nephropathy due to CFHR5 deficiency, MIM# 614809
- OMIM
- 608593
- Clinvar variants
- Variants in CFHR5
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cfhr5 has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CFHR5 were changed from to Nephropathy due to CFHR5 deficiency, MIM# 614809
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cfhr5 has been classified as Red List (Low Evidence).
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 Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: CFHR5 was set to Unknown