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| Pigmentary skin disorders v0.27 | DKC1 |
Catherine Snow Added phenotypes DKCX; DYSKERATOSIS CONGENITA, X-LINKED for gene: DKC1 Publications for gene DKC1 were changed from to 9590285 |
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| Pigmentary skin disorders v0.25 | DKC1 | Tom Cullup reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9590285; Phenotypes: DYSKERATOSIS CONGENITA, X-LINKED, DKCX; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.8 | DKC1 | Rebecca Foulger Source London North GLH was added to DKC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.4 | DKC1 | Rebecca Foulger reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.3 | DKC1 |
Rebecca Foulger gene: DKC1 was added gene: DKC1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS 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 Dyskeratosis congenita |
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