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| DDG2P v3.12 | PRPS1 | Achchuthan Shanmugasundram reviewed gene: PRPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22246954, 17701896, 8498830, 6243137, 15240907, 7593598, 10503584, 171280, 17701900, 8968763, 2423135, 20021999; Phenotypes: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, OMIM:300661, DEAFNESS X-LINKED TYPE 1, OMIM:304500, CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5, OMIM:311070; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PRPS1 | Achchuthan Shanmugasundram Publications for gene: PRPS1 were updated from 22246954; 17701896; 8498830 to 22246954; 17701896; 8498830; 6243137; 15240907; 7593598; 10503584; 171280; 17701900; 8968763; 2423135; 20021999 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PRPS1 | Rebecca Foulger reviewed gene: PRPS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PRPS1 |
Rebecca Foulger Added phenotypes ARTS SYNDROME 301835 for gene: PRPS1 Publications for gene PRPS1 were changed from 6243137; 171280; 7593598; 2423135 to 22246954; 17701896; 8498830 |
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| DDG2P v0.1 | PRPS1 |
Rebecca Foulger Added phenotypes PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY 300661 for gene: PRPS1 Publications for gene PRPS1 were changed from 10503584; 8968763; 15240907; 20021999 to 6243137; 171280; 7593598; 2423135 |
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| DDG2P v0.1 | PRPS1 |
Rebecca Foulger Added phenotypes DEAFNESS X-LINKED TYPE 1 304500 for gene: PRPS1 Publications for gene PRPS1 were changed from 17701900 to 10503584; 8968763; 15240907; 20021999 |
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| DDG2P v0.1 | PRPS1 |
Rebecca Foulger gene: PRPS1 was added gene: PRPS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PRPS1 were set to 17701900 Phenotypes for gene: PRPS1 were set to CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5 311070 |
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