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| Cystinosis v1.2 | CTNS | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #219800) and the OMIM record was last accessed on 17 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystinosis v1.2 | CTNS | Achchuthan Shanmugasundram Phenotypes for gene: CTNS were changed from to Cystinosis, atypical nephropathic, OMIM:219800; Cystinosis, nephropathic, OMIM:219800; nephropathic cystinosis, MONDO:0100151 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystinosis v0.1 | CTNS | Achchuthan Shanmugasundram reviewed gene: CTNS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystinosis v0.1 | CTNS |
Achchuthan Shanmugasundram gene: CTNS was added gene: CTNS was added to Cystinosis. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal |
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