Renal and urinary tract disorders
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
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported in Papillorenal syndrome 120330 and two in Glomerulosclerosis, focal segmental, 7 616002Created: 5 Aug 2016, 8:52 a.m.
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.
Ellen McDonagh: Comment on list classification
Added phenotypes Papillorenal syndrome; Glomerulosclerosis, focal segmental, 7 616002 for gene: PAX2
gene: PAX2 was added gene: PAX2 was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: PAX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PAX2 were set to Papillorenal syndrome; Papillorenal syndrome, 120330; Glomerulosclerosis, focal segmental, 7; RENAL-COLOBOMA SYNDROME