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| DDG2P v3.12 | SMPD1 | Achchuthan Shanmugasundram reviewed gene: SMPD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19405096, 2023926, 8401540, 12607113, 9266408, 12369017, 1301192, 1718266, 1885770, 8051942, 1391960; Phenotypes: NIEMANN-PICK DISEASE TYPE A, OMIM:257200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SMPD1 | Achchuthan Shanmugasundram Publications for gene: SMPD1 were updated from 12607113; 1301192; 9266408; 1885770; 12369017 to 19405096; 2023926; 8401540; 12607113; 9266408; 12369017; 1301192; 1718266; 1885770; 8051942; 1391960 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SMPD1 | Rebecca Foulger reviewed gene: SMPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SMPD1 |
Rebecca Foulger Added phenotypes NIEMANN-PICK DISEASE TYPE B 607616 for gene: SMPD1 Publications for gene SMPD1 were changed from 1301192; 1391960; 19405096; 8051942; 8401540; 2023926; 1718266 to 12607113; 1301192; 9266408; 1885770; 12369017 |
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| DDG2P v0.1 | SMPD1 |
Rebecca Foulger gene: SMPD1 was added gene: SMPD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SMPD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMPD1 were set to 1301192; 1391960; 19405096; 8051942; 8401540; 2023926; 1718266 Phenotypes for gene: SMPD1 were set to NIEMANN-PICK DISEASE TYPE A 257200 |
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