CAKUT

Gene: PAX2

Green List (high evidence)

PAX2 (paired box 2)
EnsemblGeneIds (GRCh38): ENSG00000075891
EnsemblGeneIds (GRCh37): ENSG00000075891
OMIM: 167409, Gene2Phenotype
PAX2 is in 19 panels

4 reviews

Helen Stuart (University of Manchester)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

John Sayer (Newcastle University)

Green List (high evidence)

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

Adrian Woolf (Professor of Paediatric Scicence, Univerisity of Manchester)

Green List (high evidence)

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

Ellen McDonagh (Genomics England Curator)

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.

History Filter Activity

22 Apr 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PAX2 were set to Papillorenal syndrome, 120330; RENAL-COLOBOMA SYNDROME; Papillorenal syndrome; Glomerulosclerosis, focal segmental, 7

22 Apr 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for PAX2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PAX2 was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Radboud University Medical Center, Nijmegen,Expert list

14 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PAX2 was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Radboud University Medical Center, Nijmegen,Expert list