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| DDG2P v3.12 | PTDSS1 | Achchuthan Shanmugasundram reviewed gene: PTDSS1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35224839, 24241535; Phenotypes: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, OMIM:151050, Developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PTDSS1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene PTDSS1 was changed from Other - please provide details in the comments to Other Publications for gene: PTDSS1 were updated from 24241535 to 35224839; 24241535 |
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| DDG2P v0.2 | PTDSS1 | Rebecca Foulger reviewed gene: PTDSS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PTDSS1 |
Rebecca Foulger gene: PTDSS1 was added gene: PTDSS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PTDSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PTDSS1 were set to 24241535 Phenotypes for gene: PTDSS1 were set to LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM 151050 Mode of pathogenicity for gene: PTDSS1 was set to Other - please provide details in the comments |
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