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| DDG2P v3.12 | DYNC2H1 | Achchuthan Shanmugasundram reviewed gene: DYNC2H1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19442771, 19361615; Phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.54 | DYNC2H1 |
Rebecca Foulger Source DD-Gene2Phenotype was added to DYNC2H1. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| DDG2P v0.7 | DYNC2H1 | Rebecca Foulger Classified gene: DYNC2H1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.7 | DYNC2H1 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Green: Rating should have been Green in original file upload because DDG2P rating is confirmed for both disorders: ASPHYXIATING THORACIC DYSTROPHY TYPE 3, and SHORT RIB-POLYDACTYLY SYNDROME TYPE 3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.7 | DYNC2H1 | Rebecca Foulger Gene: dync2h1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DYNC2H1 | Rebecca Foulger reviewed gene: DYNC2H1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | DYNC2H1 |
Rebecca Foulger Added phenotypes SHORT RIB-POLYDACTYLY SYNDROME TYPE 3 263510 for gene: DYNC2H1 Publications for gene DYNC2H1 were changed from 19442771 to 19442771; 19361615 |
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| DDG2P v0.1 | DYNC2H1 |
Rebecca Foulger gene: DYNC2H1 was added gene: DYNC2H1 was added to DDG2P. Sources: Mode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DYNC2H1 were set to 19442771 Phenotypes for gene: DYNC2H1 were set to ASPHYXIATING THORACIC DYSTROPHY TYPE 3 613091 |
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