Groopman et al 2019 - Genes with diagnostic variants

Gene: PAX2

Green List (high evidence)

PAX2 (paired box 2)
EnsemblGeneIds (GRCh38): ENSG00000075891
EnsemblGeneIds (GRCh37): ENSG00000075891
OMIM: 167409, Gene2Phenotype
PAX2 is in 19 panels

1 review

Eleanor Williams (Genomics England Curator)

I don't know

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: 5
Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.
Panel Version: 0.4

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