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Proteinuric renal disease v1.115 | NUP93 | Eleanor Williams Phenotypes for gene: NUP93 were changed from Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome to Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome; Nephrotic syndrome, type 12 #616892 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v1.114 | NUP93 | Eleanor Williams Publications for gene: NUP93 were set to Am J Hum Genet. 2015 Oct 1; 97(4):555-66 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v1.16 | NUP93 | Eleanor Williams reviewed gene: NUP93: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 26878725; Phenotypes: Nephrotic syndrome, type 12 #616892; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v1.15 | NUP93 |
Eleanor Williams Source NHS GMS was added to NUP93. Rating Changed from Green List (high evidence) to Green List (high evidence) |