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| DDG2P v3.12 | HPS1 | Achchuthan Shanmugasundram reviewed gene: HPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9705234, 9497254, 8274781, 10971344, 8896559; Phenotypes: HERMANSKY-PUDLAK SYNDROME, OMIM:203300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HPS1 | Achchuthan Shanmugasundram Publications for gene: HPS1 were updated from 9705234; 8896559; 10971344; 8274781; 9497254 to 9705234; 9497254; 10971344; 8274781; 8896559 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HPS1 | Rebecca Foulger reviewed gene: HPS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | HPS1 |
Rebecca Foulger gene: HPS1 was added gene: HPS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPS1 were set to 9705234; 8896559; 10971344; 8274781; 9497254 Phenotypes for gene: HPS1 were set to HERMANSKY-PUDLAK SYNDROME 203300 |
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