Hereditary ataxia
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
2 reviews
emma baple (Genomics England Curator)
Comment when marking as ready: Not associated with the phenotypeCreated: 11 Jul 2016, 4:43 a.m.
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
Looks like this was described as IOSCA (now known to be C10orf2). Probably not appropriate for inclusion. Not on our panel. Delete.Created: 24 Nov 2015, 4:57 p.m.
Phenotypes
Ataxia,spastic2,autosomalrecessive(2)
Details
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Ataxia,spastic2,autosomalrecessive(2)
- OMIM
- 167409
- Clinvar variants
- Variants in PAX2
- Penetrance
- Complete
- Panels with this gene
-
- Cystic kidney disease
- Intellectual disability
- Proteinuric renal disease
- Monogenic hearing loss
- Hereditary ataxia, adult onset
- CAKUT
- Anophthalmia or microphthalmia
- Retinal disorders
- Hereditary ataxia
- Ocular coloboma
- Ataxia and cerebellar anomalies - childhood onset
- Neurodegenerative disorders, adult onset
- Unexplained kidney failure in young people
- Ductal plate malformation
- Fetal anomalies
- Structural eye disease
- DDG2P
History Filter Activity
11 Jul 2016, Gel status: 1
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
6 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PAX2 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen