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| DDG2P v3.12 | PNPT1 | Achchuthan Shanmugasundram reviewed gene: PNPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23084291; Phenotypes: RESPIRATORY CHAIN DISORDER, OMIM:614932, HEARING LOSS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PNPT1 | Rebecca Foulger reviewed gene: PNPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PNPT1 | Rebecca Foulger Added phenotypes HEARING LOSS for gene: PNPT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PNPT1 |
Rebecca Foulger gene: PNPT1 was added gene: PNPT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PNPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPT1 were set to 23084291 Phenotypes for gene: PNPT1 were set to RESPIRATORY CHAIN DISORDER 614932 |
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