Genomics England
GMS Panels
Panels
Genes and Entities

NUP93

nucleoporin 93
OMIM: 614351
PanelMode of inheritanceDetails
2 panels
Green
in Proteinuric renal disease
R-numbers: R195
Signed-off version 4.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome, Nephrotic syndrome, type 12 #616892
Green
in Unexplained young onset end-stage renal disease
R-numbers: R257
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome, type 12 616892