Activity
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7 actions
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| Ataxia and cerebellar anomalies - narrow panel v2.95 | DKC1 | Sarah Leigh reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.95 | DKC1 | Sarah Leigh Publications for gene: DKC1 were set to 9590285; 9886310; 10921354; 33734615; 10583221 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.94 | DKC1 | Sarah Leigh Publications for gene: DKC1 were set to 9590285; 9886310; 10921354 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.93 | DKC1 | Sarah Leigh Phenotypes for gene: DKC1 were changed from X-linked dyskeratosis congenita to Dyskeratosis congenita, X-linked OMIM:305000; dyskeratosis congenita, X-linked MONDO:0010584 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.92 | DKC1 | Sarah Leigh Publications for gene: DKC1 were set to 9590285; 9886310 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.12 | DKC1 | Zornitza Stark reviewed gene: DKC1: Rating: RED; Mode of pathogenicity: None; Publications: 10921354; Phenotypes: Dyskeratosis congenita, X-linked, MIM# 305000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v0.5 | DKC1 |
Ellen McDonagh gene: DKC1 was added gene: DKC1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green 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 9590285; 9886310 Phenotypes for gene: DKC1 were set to X-linked dyskeratosis congenita |
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