| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DDG2P v3.12 | EXT1 | Achchuthan Shanmugasundram reviewed gene: EXT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9326317, 7550340, 8981950, 15253765; Phenotypes: HEREDITARY MULTIPLE EXOSTOSES TYPE 1, OMIM:133700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | EXT1 | Achchuthan Shanmugasundram Publications for gene: EXT1 were updated from 8981950; 9326317; 15253765; 7550340 to 9326317; 7550340; 8981950; 15253765 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | EXT1 | Rebecca Foulger reviewed gene: EXT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | EXT1 | Rebecca Foulger Added phenotypes TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 2 150230 for gene: EXT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | EXT1 |
Rebecca Foulger gene: EXT1 was added gene: EXT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EXT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EXT1 were set to 8981950; 9326317; 15253765; 7550340 Phenotypes for gene: EXT1 were set to HEREDITARY MULTIPLE EXOSTOSES TYPE 1 133700 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||