Cystic kidney disease

Gene: COL4A5

I don't know

PMCID 11121527 has identified that a proband and his mother (hemizygous) had polycystic kidney disease alongside an Alport phenotype.
PMCID 11053243 identified 3 individuals with renal cysts as children/adolescents.
PMCID 10910213 identified 3 individuals with renal cysts and a COL4A5 pathogenic variant.

I believe there have been discussion with GEL and the Bristol Lab to suggest the evidence for COL4A5 and cystic renal disease may be an association rather than causative, and it may be better to wait for further evidence rather than rely on case counting.

Created: 1 Oct 2026, 1:09 p.m. | Last Modified: 1 Oct 2026, 1:09 p.m.

Panel Version: 9.3

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
cystic renal disease

Publications

• PMCID 11121527
• PMCID 11053243
• PMCID 10910213

Removed 'for-review' tag as only 1 case, so red rating.

Created: 21 Jan 2021, 3:54 p.m. | Last Modified: 21 Jan 2021, 3:54 p.m.

Panel Version: 2.23

Comment on list classification: Promoting from grey to red, as there is one reported case. But noting the green review from expert reviewer John Sayer, marking this gene as 'for-review' by the GMS.

Created: 13 Jan 2021, 4:39 p.m. | Last Modified: 13 Jan 2021, 4:39 p.m.

Panel Version: 2.22

PMID: 31922066 - Gulati et al 2019 - through WES they identified 1 female patient with Thin glomerular basement membrane (TBM) disease and bilateral kidney cysts that was heterozygous for a COL4A5 likely pathogenic missense variant (c.C899T: p. P300L)

Created: 13 Jan 2021, 4:38 p.m. | Last Modified: 13 Jan 2021, 4:38 p.m.

Panel Version: 2.21

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
cystic kidney disease MONDO:0002473

Publications

• 31922066

Green List (high evidence)

Additional publication supporting this gene with cystic kidney phenotypes
PMID: 38680391

Created: 30 Jun 2024, 10:45 a.m. | Last Modified: 30 Jun 2024, 10:45 a.m.

Panel Version: 5.8

COL4A5 may cause mild cystic kidney disease
Sources: Other

Created: 5 Jun 2020, 3:03 p.m. | Last Modified: 5 Jun 2020, 3:03 p.m.

Panel Version: 2.17

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
cystic kidney disease

Publications

• 31922066