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Abstract: SA-PO747

An Updated Analysis of the Irish Kidney Gene Project Registry

Session Information

Category: Genetic Diseases of the Kidneys

  • 1201 Genetic Diseases of the Kidneys: Cystic


  • Elhassan, Elhussein Aamir Elzein, Beaumont Hospital, Dublin, Ireland
  • Sarihan, Sahin, Royal College of Surgeons in Ireland, Dublin, Dublin, Ireland
  • McAnallen, Susan Marie, Beaumont Hospital, Dublin, Ireland
  • Connaughton, Dervla M., Western University Schulich School of Medicine & Dentistry, London, Ontario, Canada
  • Kidd, Kendrah O., Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States
  • Bleyer, Anthony J., Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States
  • Cavalleri, Gianpiero, Royal College of Surgeons in Ireland, Dublin, Dublin, Ireland
  • Benson, Katherine A., Royal College of Surgeons in Ireland, Dublin, Dublin, Ireland
  • Conlon, Peter J., Beaumont Hospital, Dublin, Ireland

Over 700 genes have been implicated in monogenic nephropathies (MN), a significant cause of chronic kidney disease (CKD), but their prevalence is often underestimated. Diagnosing MN can personalize clinical management with better-informed choices of therapies and targeted disease surveillance and influence prognosis and genetic counseling for patients and their families. Herein, we provide an update on the diagnostic yield of various technologies (exome sequencing, targeted gene panel, and MUC-1 sequencing) and immunostaining utilized by the Irish Kidney Gene Project (IKGP).


All results from the multidisciplinary genetic kidney clinic between January 2014 and March 2023 were analyzed in this prospective cohort study. All clinic visit records were analyzed for clinical and genetic factors associated with solved cases. Using the guidelines of the American College of Medical Genetics and Genomics, pathogenic or likely pathogenic variants were evaluated as disease-causing.


Through the IKGP, 593 families (976 individuals) had been sequenced, of which 49.4% (482/976) were female. At the last follow-up, 58.5% of patients, with an average age of 42.3 ± 16.5 years, had reached end-stage kidney disease. We were able to demonstrate a likely-pathogenic/pathogenic variant in 47.4% (281/593) of families, encompassing 52 distinct monogenic entities. Three phenotypes accounted for up to 82% of positive results in genes related to autosomal dominant polycystic kidney disease (PKD1 (number for families (n)=155), PKD2 (n=23), IFT140 (n=4)), autosomal dominant tubulointerstitial kidney disease (UMOD (n=8), MUC1 (n=10), HNF1B (n=2), and DNAJB11 (n=1)), and COL4A-related phenotypes (COL4A5 (n=20), monoallelic COL4A4 (n=1), COL4A3 (monoallelic n=5; biallelic n=3)). Disease-causing variants identified in the remaining 42 genes comprised 17.4% of the solved families. In 31.1% (n=24) of the 77 families referred with a priori diagnosis of CKD of undetermined cause were found to have a known monogenic cause.


The use of broad genomic strategies had a high success rate, especially in the presence of family history.