| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Proteinuric renal disease v2.35 | NOP10 | Eleanor Williams Classified gene: NOP10 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.35 | NOP10 | Eleanor Williams Added comment: Comment on list classification: Promoting this gene from grey to red as there is one reported family with a missense variant in this gene and a phenotype that includes nephrotic syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.35 | NOP10 | Eleanor Williams Gene: nop10 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.34 | NOP10 | Eleanor Williams reviewed gene: NOP10: Rating: RED; Mode of pathogenicity: None; Publications: 32554502; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.33 | NOP10 |
Moin Saleem gene: NOP10 was added gene: NOP10 was added to Proteinuric renal disease. Sources: Literature Mode of inheritance for gene: NOP10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NOP10 were set to 32554502 Phenotypes for gene: NOP10 were set to steroid-resistant 6 nephrotic syndrome; cataracts (prior to steroid treatment); sensorineural deafness; enterocolitis Penetrance for gene: NOP10 were set to unknown Review for gene: NOP10 was set to RED Added comment: 2 affected females in one pedigree Sources: Literature |
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