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Childhood solid tumours v1.27 | DKC1 | Ivone Leong reviewed gene: DKC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.26 | DKC1 |
Ivone Leong gene: DKC1 was added gene: DKC1 was added to Tumour predisposition - childhood onset. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: DKC1 were set to 12522253; 11379875; 20587522; 31027506; 18005359; 9888995; 10364516 Phenotypes for gene: DKC1 were set to Dyskeratosis congenita, autosomal recessive 6, 616353 |