Activity
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| Lysosomal storage disorder v2.4 | CTNS | Achchuthan Shanmugasundram Publications for gene: CTNS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v1.16 | CTNS | Sarah Leigh Phenotypes for gene: CTNS were changed from Cystinosis, atypical nephropathic 219800; Cystinosis, nephropathic 219800; Cystinosis, late-onset juvenile or adolescent nephropathic 219900; Cystinosis, ocular nonnephropathic 219750 to Cystinosis, atypical nephropathic OMIM:219800; Cystinosis, nephropathic OMIM:219800; Cystinosis, late-onset juvenile or adolescent nephropathic OMIM:219900; Cystinosis, ocular nonnephropathic OMIM:219750; nephropathic cystinosis MONDO:0100151; juvenile nephropathic cystinosis MONDO:0009066; ocular cystinosis MONDO:0009064 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.3 | CTNS | Emma Ashton reviewed gene: CTNS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.3 | CTNS | Carol Hardy reviewed gene: CTNS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cystinosis, atypical nephropathic 219800, Cystinosis, late-onset juvenile or adolescent nephropathic 219900, Cystinosis, nephropathic 219800, Cystinosis, ocular nonnephropathic 219750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.2 | CTNS |
Ivone Leong gene: CTNS was added gene: CTNS was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTNS were set to Cystinosis, atypical nephropathic 219800; Cystinosis, nephropathic 219800; Cystinosis, late-onset juvenile or adolescent nephropathic 219900; Cystinosis, ocular nonnephropathic 219750 |
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