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DDG2P v3.12 | CHSY1 | Achchuthan Shanmugasundram reviewed gene: CHSY1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21129727, 19952732, 21129728, 9823490; Phenotypes: TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME, OMIM:605282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | CHSY1 | Achchuthan Shanmugasundram Publications for gene: CHSY1 were updated from 9823490; 19952732; 21129727; 21129728 to 21129727; 19952732; 21129728; 9823490 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | CHSY1 | Rebecca Foulger reviewed gene: CHSY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | CHSY1 |
Rebecca Foulger gene: CHSY1 was added gene: CHSY1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CHSY1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHSY1 were set to 9823490; 19952732; 21129727; 21129728 Phenotypes for gene: CHSY1 were set to TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME 605282 |