Genomics England
GMS Panels
Panels
Genes and Entities

NUP107

nucleoporin 107
OMIM: 607617
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.48
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NUP107-related steroid resistant nephrotic syndrome with microcephaly, developmental delay and simplified gyration (Galloway-Mowat syndrome), OMIM:618348
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.80
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME
Green
in Proteinuric renal disease
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R195
Signed-off version 4.22
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome, type 11 #616730
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 7.16
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galloway-Mowat syndrome 7, OMIM:618348