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| DDG2P v3.12 | PSAT1 | Achchuthan Shanmugasundram reviewed gene: PSAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17436247; Phenotypes: NEU-LAXOVA SYNDROME, OMIM:256520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PSAT1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PSAT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | PSAT1 | Rebecca Foulger reviewed gene: PSAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PSAT1 | Rebecca Foulger Added phenotypes NEU-LAXOVA SYNDROME 256520 for gene: PSAT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PSAT1 |
Rebecca Foulger gene: PSAT1 was added gene: PSAT1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSAT1 were set to 17436247 Phenotypes for gene: PSAT1 were set to PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY 610992 |
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