Genomics England
GMS Panels
Panels
Genes and Entities

NUP93

nucleoporin 93
OMIM: 614351
PanelMode of inheritanceDetails
1 panel
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome, Nephrotic syndrome, type 12 #616892