Skip to content
Use your HSA or FSA funds

Condition report · Urological

CEP164-Related Ciliopathy

A rare ciliopathy that mainly affects the kidneys (nephronophthisis). It is caused by changes in both copies of the CEP164 gene.

A condition report looks for rare variants known to cause the conditions it covers.

Included in Premium and Premium + AI

Premium adds $99 per kit for the first year.

Order with Premium

The condition we analyse

Autosomal recessive

Caused by changes in both copies of the CEP164 gene, which is needed for the formation of primary cilia, small antenna-like structures on cells. It belongs to the nephronophthisis-related ciliopathies.

Signs and symptoms

Nephronophthisis, a progressive cystic kidney disease that can progress to kidney failure.

What a diagnosis changes

Regular monitoring of kidney function and blood pressure, with dialysis or kidney transplantation when kidney failure develops. Parents of an affected child are usually both carriers, so genetic counselling and carrier testing can be offered.

Genes analysed

Also known as

ciliopathy-CEP164

Includes 1 related subtype ↓
  • nephronophthisis 15
MONDO:0700344Sources: [1][2][3]

References

  1. Devlin LA, Ramsbottom SA, Overman LM, Lisgo SN, Clowry G, Molinari E et al., 2020. Embryonic and foetal expression patterns of the ciliopathy gene CEP164. PloS one
  2. Devlin LA, Coles J, Jackson CL, Barroso-Gil M, Green B, Walker WT et al., 2023. Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome. Clinical genetics
  3. Morrison CG, 2022. How CEP164 ciliopathy mutations impair ciliogenesis. Structure (London, England : 1993)

Other urological conditions

All conditions →

One test. A lifetime of answers.

One kit, sent to your home. Your entire genome sequenced at the clinical standard used for diagnostic decisions. Physician-ready reports delivered to your Genome Manager in 6–8 weeks — permanent and updated as science advances.

From $449

Free shipping · Results in 6–8 weeks

Premium adds $99 per kit for the first year.

Order with Premium