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| DDG2P v3.12 | JAM3 | Achchuthan Shanmugasundram reviewed gene: JAM3: Rating: GREEN; Mode of pathogenicity: ; Publications: 23255084, 21109224; Phenotypes: HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, OMIM:613730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DYM | Achchuthan Shanmugasundram reviewed gene: DYM: Rating: GREEN; Mode of pathogenicity: ; Publications: 16097008, 19005420, 12554689, 12491225; Phenotypes: DYGGVE-MELCHIOR-CLAUSEN SYNDROME/SMITH-MCCORT DYSPLASIA, OMIM:223800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DYM | Achchuthan Shanmugasundram Publications for gene: DYM were updated from 12554689; 12491225; 16097008 to 16097008; 19005420; 12554689; 12491225 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DYM | Rebecca Foulger reviewed gene: DYM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | JAM3 |
Rebecca Foulger gene: JAM3 was added gene: JAM3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: JAM3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: JAM3 were set to 21109224; 23255084 Phenotypes for gene: JAM3 were set to HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS 613730 |
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| DDG2P v0.1 | DYM |
Rebecca Foulger Added phenotypes DYGGVE-MELCHIOR-CLAUSEN SYNDROME 223800 for gene: DYM Publications for gene DYM were changed from 19005420; 12491225 to 12554689; 12491225; 16097008 |
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| DDG2P v0.1 | DYM |
Rebecca Foulger gene: DYM was added gene: DYM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DYM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DYM were set to 19005420; 12491225 Phenotypes for gene: DYM were set to SMITH-MCCORT DYSPLASIA 607326 |
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