PAX2

PanelMode of inheritanceDetails
7 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
RENAL-COLOBOMA SYNDROME 120330
R-numbers: R21, R412
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
RENAL-COLOBOMA SYNDROME
R-numbers: R67
Signed-off version 3.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
RENAL-COLOBOMA SYNDROME, #120330:Papillorenal syndrome, #616002:Glomerulosclerosis, focal segmental, 7
R-numbers: R195
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Glomerulosclerosis, focal segmental, 7 #616002
R-numbers: R32
Signed-off version 3.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Papillorenal syndrome, OMIM:120330, renal coloboma syndrome, MONDO:0007352
R-numbers: R36
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Papillorenal syndrome 120330
R-numbers: R257
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Papillorenal syndrome, 120330, RENAL-COLOBOMA SYNDROME, Papillorenal syndrome, Glomerulosclerosis, focal segmental, 7, Glomerulosclerosis, focal segmental, 7 616002