CAKUT
Gene: PAX2EnsemblGeneIds (GRCh38): ENSG00000075891
EnsemblGeneIds (GRCh37): ENSG00000075891
OMIM: 167409, Gene2Phenotype
PAX2 is in 17 panels
4 reviews
Helen Stuart (University of Manchester)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
John Sayer (Newcastle University)
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)
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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Papillorenal syndrome, 120330
- RENAL-COLOBOMA SYNDROME
- Papillorenal syndrome
- Glomerulosclerosis, focal segmental, 7
- OMIM
- 167409
- Clinvar variants
- Variants in PAX2
- Penetrance
- Complete
- Panels with this gene
-
- CAKUT
- Ocular coloboma
- Intellectual disability
- Cystic kidney disease
- Hereditary ataxia with onset in adulthood
- Structural eye disease
- Monogenic hearing loss
- Fetal anomalies
- Adult onset neurodegenerative disorder
- Unexplained kidney failure in young people
- Ductal plate malformation
- Proteinuric renal disease
- DDG2P
- Retinal disorders
- Hereditary ataxia
- Ataxia and cerebellar anomalies - narrow panel
- Anophthalmia or microphthalmia
History Filter Activity
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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for PAX2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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
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