This Panel is marked as Deleted
Kidneyome_SuperPanel_VCGS
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
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Glomerulosclerosis, focal segmental, 7, MIM#616002
- OMIM
- 167409
- Clinvar variants
- Variants in PAX2
- Penetrance
- None
- Publications
- 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
- Cystic kidney disease
- Hereditary ataxia
- Fetal anomalies
- DDG2P
- Anophthalmia or microphthalmia
History Filter Activity
28 Jan 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: PAX2 was added gene: PAX2 was added to Kidneyome_SuperPanel_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: PAX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PAX2 were set to 24676634 Phenotypes for gene: PAX2 were set to Glomerulosclerosis, focal segmental, 7, MIM#616002