Renal Macrocystic Disease
Gene: COL4A5EnsemblGeneIds (GRCh38): ENSG00000188153
EnsemblGeneIds (GRCh37): ENSG00000188153
OMIM: 303630, Gene2Phenotype
COL4A5 is in 10 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Multiple kidney cysts, usually with normal kidney volume, were found in 37% (26/70) of patients with a genetically confirmed AS (COL4A3-5), mostly ADAS. A few patients' kidney volumes were similar to autosomal dominant polycystic kidney disease. The prevalence of cystic kidney phenotype was significantly higher in patients with AS compared to those with IgA nephropathy (42% vs 19%; P=0.002). The cystic phenotype in the AS patients was associated with an older age and lower eGFR levels. Also, other studies reporting COL4A5 variants in individuals with a cystic kidney disease phenotype.
Sources: LiteratureCreated: 11 Dec 2024, 2:04 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Alport syndrome MONDO:0018965
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Alport syndrome MONDO:0018965
- OMIM
- 303630
- Clinvar variants
- Variants in COL4A5
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: col4a5 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: col4a5 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: COL4A5 was added gene: COL4A5 was added to Renal Macrocystic Disease. Sources: Literature Mode of inheritance for gene: COL4A5 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: COL4A5 were set to 38790225; 38680391; 38514012 Phenotypes for gene: COL4A5 were set to Alport syndrome MONDO:0018965 Review for gene: COL4A5 was set to GREEN gene: COL4A5 was marked as current diagnostic