Cystic kidney disease
Gene: COL4A4
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
may phenocopy PKD1
Sources: OtherCreated: 5 Jun 2020, 3:05 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
cystic kidney disease
Publications
Tag for-review was removed from gene: COL4A4.
Phenotypes for gene: COL4A4 were changed from Cystic kidney disease, MONDO:0002473 to Cystic kidney disease, MONDO:0002473
Phenotypes for gene: COL4A4 were changed from cystic kidney disease MONDO:0002473 to Cystic kidney disease, MONDO:0002473
Tag for-review tag was added to gene: COL4A4.
Gene: col4a4 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: COL4A4 were changed from cystic kidney disease to cystic kidney disease MONDO:0002473
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