Genomics England
GMS Panels
Panels
Genes and Entities
NUP85
nucleoporin 85
OMIM:
170285
See this entity in PanelApp
Panel
Mode of inheritance
Details
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in
Proteinuric renal disease
Component of the following Super Panels:
- Unexplained young onset end-stage renal disease
R-numbers:
R195
Signed-off version 4.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome, type 17 #618176