Genomics England
GMS Panels
Panels
Genes and Entities

PAX2

paired box 2
OMIM: 167409
PanelMode of inheritanceDetails
7 panels
Green
in Cystic kidney disease
Component of the following Super Panels:
  • - Cystic renal disease
  • - Unexplained young onset end-stage renal disease
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Papillorenal syndrome, OMIM:120330, renal coloboma syndrome, MONDO:0007352
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
RENAL-COLOBOMA SYNDROME 120330
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
RENAL-COLOBOMA SYNDROME
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.57
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
RENAL-COLOBOMA SYNDROME, #120330:Papillorenal syndrome, #616002:Glomerulosclerosis, focal segmental, 7
Green
in Proteinuric renal disease
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R195
Signed-off version 4.15
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Glomerulosclerosis, focal segmental, 7 #616002
Green
in Retinal disorders
R-numbers: R32
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Papillorenal syndrome, OMIM:120330, renal coloboma syndrome, MONDO:0007352
Green
in Structural eye disease
R-numbers: R36
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Papillorenal syndrome 120330