Clinical Domain Working Groups

The CAKUT (congenital anomalies of the kidney and urinary tract) Gene Curation Expert Panel (GCEP) is comprised of members with diverse expertise and active involvement in the field, representing clinical, diagnostic laboratory, and basic research experience. The broad scope of the panel will be to curate genes associated with the development of both isolated and syndromic forms of CAKUT. The spectrum of malformations included will range from milder conditions, such as many instances of vesicoureteral reflux, through to severe conditions, such as renal hypodysplasia leading to kidney failure requiring dialysis and transplantation, or even bilateral renal agenesis, with emphasis placed on those disorders where CAKUT is a major phenotypic feature. To date, more than 200 genes and structural variants, displaying different modes of inheritance, have been asserted in the literature to be associated with CAKUT and this number continues to increase. Furthermore, epigenetic and environmental factors have also been described in association with CAKUT.