CAKUT
Gene: PAX2
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
renal coloboma syndrome; hyperuricaemia; cystic kidneys; cakut; retinal coloboma; morning glory sign
Variants in this GENE are reported as part of current diagnostic practice
Many publications show that humans with heterozygous mutations can be born with hypoplastic kidneys. Sometimes vesicoureteric reflux is also present. Severity of renal disease is variable between patients even in the same family. Mice with heterozygous Pax2 mutations are born with small kidneys. Probably this is a relatively common cause of human kidney malformation but at present testing is not available on the UK Gene Testing network.Created: 22 Apr 2016, 11:56 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Comment on list classification: Promoted from red to green due to expert review, and is a confirmed DD gene for renal-colomba syndrome. Associated with Glomerulosclerosis, focal segmental, 7 and Papillorenal syndrome in OMIM.Created: 22 Apr 2016, 10:23 a.m.
Phenotypes for PAX2 were set to Papillorenal syndrome, 120330; RENAL-COLOBOMA SYNDROME; Papillorenal syndrome; Glomerulosclerosis, focal segmental, 7
Mode of inheritance for PAX2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
PAX2 was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Radboud University Medical Center, Nijmegen,Expert list
PAX2 was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Radboud University Medical Center, Nijmegen,Expert list