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| DDG2P v3.12 | PSPH | Achchuthan Shanmugasundram reviewed gene: PSPH: Rating: GREEN; Mode of pathogenicity: ; Publications: 25152457, 14673469, 9222972; Phenotypes: NEU-LAXOVA, OMIM:256520, PHOSPHOSERINE PHOSPHATASE DEFICIENCY, OMIM:614023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PSPH | Achchuthan Shanmugasundram Publications for gene: PSPH were updated from 25152457 to 25152457; 14673469; 9222972 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PSPH | Rebecca Foulger reviewed gene: PSPH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PSPH |
Rebecca Foulger Added phenotypes NEU-LAXOVA 256520 for gene: PSPH Publications for gene PSPH were changed from 9222972; 14673469 to 25152457 |
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| DDG2P v0.1 | PSPH |
Rebecca Foulger gene: PSPH was added gene: PSPH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PSPH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSPH were set to 9222972; 14673469 Phenotypes for gene: PSPH were set to PHOSPHOSERINE PHOSPHATASE DEFICIENCY 614023 |
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