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| DDG2P v3.12 | APTX | Achchuthan Shanmugasundram reviewed gene: APTX: Rating: GREEN; Mode of pathogenicity: ; Publications: 15852392, 11586300, 12196655, 11586299, 15365154; Phenotypes: ATAXIA WITH OCULOMOTOR APRAXIA 1, OMIM:208920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | APTX | Achchuthan Shanmugasundram Publications for gene: APTX were updated from 12196655; 11586300; 11586299; 15365154; 15852392 to 15852392; 11586300; 12196655; 11586299; 15365154 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | APTX | Rebecca Foulger reviewed gene: APTX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | APTX |
Rebecca Foulger gene: APTX was added gene: APTX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: APTX were set to 12196655; 11586300; 11586299; 15365154; 15852392 Phenotypes for gene: APTX were set to ATAXIA WITH OCULOMOTOR APRAXIA 1 208920 |
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