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| DDG2P v3.12 | DKC1 | Achchuthan Shanmugasundram reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: DKC1-RELATED DYSKERATOSIS CONGENITA, OMIM:314912; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.107 | DKC1 | Rebecca Foulger Phenotypes for gene: DKC1 were changed from DYSKERATOSIS CONGENITA, X-LINKED; DKC1-RELATED DYSKERATOSIS CONGENITA 314912 to DYSKERATOSIS CONGENITA, X-LINKED, 305000; DKC1-RELATED DYSKERATOSIS CONGENITA 314912 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DKC1 | Rebecca Foulger reviewed gene: DKC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | DKC1 | Rebecca Foulger Added phenotypes DYSKERATOSIS CONGENITA, X-LINKED for gene: DKC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | DKC1 |
Rebecca Foulger gene: DKC1 was added gene: DKC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: DKC1 were set to DKC1-RELATED DYSKERATOSIS CONGENITA 314912 |
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