Genomics England
GMS Panels
Panels
Genes and Entities

NUP133

nucleoporin 133
OMIM: 607613
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GALLOWAY-MOWAT SYNDROME 8, 618349
Green
in Proteinuric renal disease
R-numbers: R195
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Galloway-Mowat syndrome 8 618349, Nephrotic syndrome, type 18 618177
Green
in Unexplained young onset end-stage renal disease
R-numbers: R257
Signed-off version 3.11
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome, type 18 618177, ?Galloway-Mowat syndrome 8 618349