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| DDG2P v3.12 | CTNS | Achchuthan Shanmugasundram reviewed gene: CTNS: Rating: GREEN; Mode of pathogenicity: ; Publications: 10673275, 11565547, 10625078, 9792862, 12442267, 11505338, 10556299, 9537412, 10444339, 19863563; Phenotypes: CYSTINOSIS NEPHROPATHIC TYPE, OMIM:219800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CTNS | Achchuthan Shanmugasundram Publications for gene: CTNS were updated from 19863563; 10556299; 10444339 to 10673275; 10625078; 12442267; 9792862; 11505338; 10556299; 9537412; 11565547; 10444339; 19863563 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CTNS | Rebecca Foulger reviewed gene: CTNS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CTNS |
Rebecca Foulger Added phenotypes CYSTINOSIS LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE 219900 for gene: CTNS Publications for gene CTNS were changed from 9792862; 9537412; 11505338; 10556299; 12442267; 11565547; 10673275 to 19863563; 10556299; 10444339 |
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| DDG2P v0.1 | CTNS |
Rebecca Foulger Added phenotypes CYSTINOSIS NEPHROPATHIC TYPE 219800 for gene: CTNS Publications for gene CTNS were changed from 10625078; 11505338 to 9792862; 9537412; 11505338; 10556299; 12442267; 11565547; 10673275 |
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| DDG2P v0.1 | CTNS |
Rebecca Foulger gene: CTNS was added gene: CTNS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTNS were set to 10625078; 11505338 Phenotypes for gene: CTNS were set to CYSTINOSIS ADULT NON-NEPHROPATHIC TYPE 219750 |
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