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| DDG2P v3.12 | PREPL | Achchuthan Shanmugasundram reviewed gene: PREPL: Rating: GREEN; Mode of pathogenicity: ; Publications: 24610330; Phenotypes: HYPOTONIA-CYSTINURIA SYNDROME, OMIM:606407; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PREPL |
Achchuthan Shanmugasundram Source Expert Review Green was added to PREPL. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | PREPL | Rebecca Foulger reviewed gene: PREPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PREPL |
Rebecca Foulger gene: PREPL was added gene: PREPL was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PREPL were set to 24610330 Phenotypes for gene: PREPL were set to HYPOTONIA-CYSTINURIA SYNDROME 606407 |
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