Cystic kidney disease
Gene: COL4A4EnsemblGeneIds (GRCh38): ENSG00000081052
EnsemblGeneIds (GRCh37): ENSG00000081052
OMIM: 120131, Gene2Phenotype
COL4A4 is in 9 panels
3 reviews
Aakash Joshi (St George's Hospital)
PMCID 10910213 had a cohort of 16 patients with Alport of which 2 unrelated individuals had cystic renal disease. It is unclear whether these individuals would be classed as AD-PKD, but they were noted to not have any extra renal features.Created: 29 Sep 2026, 12:38 p.m. | Last Modified: 29 Sep 2026, 12:38 p.m.
Panel Version: 9.3
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
cystic renal disease
Publications
- PMCID 10910213
Eleanor Williams (Genomics England Curator)
After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. The reviewers note that only 1 patient reported where they would be classed as AD-PKD. The other 3 are primarily TBMN patients who also have renal cysts.Created: 7 Mar 2022, 3:39 p.m. | Last Modified: 7 Mar 2022, 3:39 p.m.
Panel Version: 2.33
Comment on list classification: Promoting this gene from grey to amber, but there are 3 cases so could be promoted to green following GMS review.Created: 13 Jan 2021, 4:27 p.m. | Last Modified: 13 Jan 2021, 4:27 p.m.
Panel Version: 2.21
PMID: 31922066 - Gulati et al 2019 - using WES they identified heterozygous pathogenic COL4A4 mutations in 1 patient with "no PKD mutation detected"-autosomal dominant polycystic kidney disease (NMD-ADPKD) (a splice site variant) and 3 patients with Thin glomerular basement membrane (TBM) disease and cystic kidney (1 variant affects splice site, 2 are frameshift variants).Created: 13 Jan 2021, 4:25 p.m. | Last Modified: 13 Jan 2021, 4:25 p.m.
Panel Version: 2.19
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
cystic kidney disease MONDO:0002473
Publications
John Sayer (Newcastle University)
may phenocopy PKD1
Sources: Other
additional new publication
PMID: 38178635Created: 5 Jun 2020, 3:05 p.m. | Last Modified: 30 Jun 2024, 10:46 a.m.
Panel Version: 5.8
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
cystic kidney disease
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Cystic kidney disease, MONDO:0002473
- OMIM
- 120131
- Clinvar variants
- Variants in COL4A4
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: COL4A4 were set to 31922066
Removed Tag
Eleanor Williams (Genomics England Curator)Tag for-review was removed from gene: COL4A4.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: COL4A4 were changed from Cystic kidney disease, MONDO:0002473 to Cystic kidney disease, MONDO:0002473
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: COL4A4 were changed from cystic kidney disease MONDO:0002473 to Cystic kidney disease, MONDO:0002473
Added Tag
Ivone Leong (Genomics England Curator)Tag for-review tag was added to gene: COL4A4.
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: col4a4 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: COL4A4 were changed from cystic kidney disease to cystic kidney disease MONDO:0002473
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
John Sayer (Newcastle University)gene: COL4A4 was added gene: COL4A4 was added to Cystic kidney disease. Sources: Other Mode of inheritance for gene: COL4A4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: COL4A4 were set to 31922066 Phenotypes for gene: COL4A4 were set to cystic kidney disease Penetrance for gene: COL4A4 were set to unknown Review for gene: COL4A4 was set to AMBER