Haematuria_Alport
Gene: CFHR5EnsemblGeneIds (GRCh38): ENSG00000134389
EnsemblGeneIds (GRCh37): ENSG00000134389
OMIM: 608593, Gene2Phenotype
CFHR5 is in 7 panels
2 reviews
Chirag Patel (Genetic Health Queensland)
This is more a complement mediated disease rather than a true haematuria/GBM disease.Created: 3 Jan 2020, 4:58 a.m. | Last Modified: 3 Jan 2020, 4:58 a.m.
Panel Version: 0.14
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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.Created: 16 Jan 2020, 9:04 a.m. | Last Modified: 16 Jan 2020, 9:04 a.m.
Panel Version: 0.25
Progressive condition, haematuria may manifest after infections.Created: 20 Dec 2019, 4:54 a.m. | Last Modified: 20 Dec 2019, 4:54 a.m.
Panel Version: 0.7
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Nephropathy due to CFHR5 deficiency, MIM#614809
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- Nephropathy due to CFHR5 deficiency, MIM#614809
- Tags
- OMIM
- 608593
- Clinvar variants
- Variants in CFHR5
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CFHR5 were set to 30844074; 30197990; 24067434; 21566112; 20800271; 27490940; 24334459
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: CFHR5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CFHR5 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: CFHR5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag SV/CNV tag was added to gene: CFHR5.
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 Nephropathy due to CFHR5 deficiency, MIM#614809 to Nephropathy due to CFHR5 deficiency, MIM#614809
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
Chirag Patel (Genetic Health Queensland)Gene: cfhr5 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)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 Alport syndrome extended_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CFHR5 was set to Unknown