Unexplained kidney failure in young people
Gene: PAX2
PAX2 (paired box 2)
EnsemblGeneIds (GRCh38): ENSG00000075891
EnsemblGeneIds (GRCh37): ENSG00000075891
OMIM: 167409, Gene2Phenotype
PAX2 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000075891
EnsemblGeneIds (GRCh37): ENSG00000075891
OMIM: 167409, Gene2Phenotype
PAX2 is in 17 panels
1 review
Sarah Leigh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- UKGTN
- Expert list
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Glomerulosclerosis, focal segmental, 7 616002
- Papillorenal syndrome 120330
- OMIM
- 167409
- Clinvar variants
- Variants in PAX2
- Penetrance
- Complete
- Panels with this gene
-
- CAKUT
- Monogenic hearing loss
- Ocular coloboma
- Adult onset neurodegenerative disorder
- Structural eye disease
- Ataxia and cerebellar anomalies - narrow panel
- Retinal disorders
- Hereditary ataxia with onset in adulthood
- Unexplained kidney failure in young people
- Intellectual disability
- Ductal plate malformation
- Proteinuric renal disease
- Hereditary ataxia
- Fetal anomalies
- DDG2P
- Anophthalmia or microphthalmia
- Cystic kidney disease
History Filter Activity
17 Aug 2016, Gel status: 4
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
5 Aug 2016, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
5 Aug 2016, Gel status: 4
Upload gene information
Sarah Leigh (Genomics England Curator)PAX2 was added to Unexplained kidney failure in young peoplepanel. Sources: UKGTN
27 Jun 2016, Gel status: 4
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for PAX2 were set to Glomerulosclerosis, focal segmental, 7 616002; Papillorenal syndrome 120330
18 May 2016, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)PAX2 was added to Unexplained kidney failure in young peoplepanel. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
18 May 2016, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)PAX2 was created by sleigh