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Renal tubulopathies v3.4 | CTNS | Achchuthan Shanmugasundram Publications for gene: CTNS were set to 27604308; 9537412; 19863563 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal tubulopathies v1.37 | CTNS | Eleanor Williams Phenotypes for gene: CTNS were changed from Cystinosis, atypical nephropathic 219800; Cystinosis, late-onset juvenile or adolescent nephropathic 219900; Cystinosis, nephropathic 219800 to Cystinosis, atypical nephropathic 219800; Cystinosis, late-onset juvenile or adolescent nephropathic 219900; Cystinosis, nephropathic 219800; Cystinosis, ocular nonnephropathic 219750 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal tubulopathies v1.16 | CTNS | Eleanor Williams reviewed gene: CTNS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cystinosis, nephropathic MIM 219800. Cystinosis, ocular nonnephropathic MIM 219750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal tubulopathies v1.15 | CTNS |
Eleanor Williams Source NHS GMS was added to CTNS. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Renal tubulopathies | CTNS | Sarah Leigh added CTNS to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal tubulopathies | CTNS | Sarah Leigh reviewed CTNS |