This Panel is marked as Internal
Groopman et al 2019 - Genes with diagnostic variants
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
Eleanor Williams (Genomics England Curator)
From Groopman et al 2019 Table S7. Gene sybmol: PAX2; Inheritance: AD; Clinical diagnosis: Congenital or cystic renal disease; Glomerulopathy; Nephropathy of unknown origin; Genetic diagnosis: Glomerulosclerosis focal segmental 7; Papillorenal syndrome; OMIM phenotype MIM no.: 616002; 120330; Number of cases: 5Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.
Panel Version: 0.4
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert review green
- Literature
- Phenotypes
-
- MIM 616002
- Congenital or cystic renal disease
- Nephropathy of unknown origin
- Glomerulosclerosis focal segmental 7
- Glomerulopathy
- Papillorenal syndrome
- 120330
- OMIM
- 167409
- Clinvar variants
- Variants in PAX2
- Penetrance
- None
- Panels with this gene
-
- Monogenic hearing loss
- CAKUT
- Anophthalmia or microphthalmia
- Hereditary ataxia with onset in adulthood
- Fetal anomalies
- DDG2P
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary ataxia
- Ocular coloboma
- Proteinuric renal disease
- Unexplained kidney failure in young people
- Ductal plate malformation
- Retinal disorders
- Adult onset neurodegenerative disorder
- Cystic kidney disease
- Intellectual disability
- Structural eye disease
History Filter Activity
2 Jul 2019, Gel status: 3
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to PAX2. Rating Changed from Red List (low evidence) to Green List (high evidence)
2 Jul 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: PAX2 was added gene: PAX2 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green Mode of inheritance for gene: PAX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PAX2 were set to MIM 616002; Congenital or cystic renal disease; Nephropathy of unknown origin; Glomerulosclerosis focal segmental 7; Glomerulopathy; Papillorenal syndrome; 120330