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| Prepair 1000+ v1.990 | DYM | Lilian Downie Marked gene: DYM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.990 | DYM | Lilian Downie Gene: dym has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.990 | DYM | Lilian Downie Phenotypes for gene: DYM were changed from Dyggve-Melchior-Clausen disease, 223800 (3) to Dyggve-Melchior-Clausen disease MIM#223800; Smith-McCort dysplasia MIM#607326 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.989 | DYM | Lilian Downie Publications for gene: DYM were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.988 | DYM | Lilian Downie reviewed gene: DYM: Rating: ; Mode of pathogenicity: None; Publications: 16326827, 38860472, 35477554; Phenotypes: Dyggve-Melchior-Clausen disease MIM#223800, Smith-McCort dysplasia MIM#607326; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.546 | JAM3 | Andrew Coventry reviewed gene: JAM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23255084, 21109224, 34292449; Phenotypes: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts MIM#613730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | DYM | Seb Lunke Added phenotypes Dyggve-Melchior-Clausen disease, 223800 (3) for gene: DYM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | JAM3 |
Zornitza Stark gene: JAM3 was added gene: JAM3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: JAM3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: JAM3 were set to Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 (3) |
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| Prepair 1000+ v0.0 | DYM |
Zornitza Stark gene: DYM was added gene: DYM was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DYM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DYM were set to Dyggve-Melchior-Clausen disease, 223800 (3) |
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