| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v0.273 | DKC1 | Zornitza Stark Marked gene: DKC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.273 | DKC1 | Zornitza Stark Gene: dkc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.273 | DKC1 | Zornitza Stark Phenotypes for gene: DKC1 were changed from DKC1-RELATED DYSKERATOSIS CONGENITA; DYSKERATOSIS CONGENITA, X-LINKED to Dyskeratosis congenita, X-linked MIM#305000; Hoyeraal-Hreidarsson syndrome (HHS) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.272 | DKC1 | Zornitza Stark Publications for gene: DKC1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.249 | DKC1 | Belinda Chong reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31269755, 26951492, 29081935, 25940403; Phenotypes: Dyskeratosis congenita, X-linked MIM#305000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DKC1 |
Zornitza Stark gene: DKC1 was added gene: DKC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp 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; DYSKERATOSIS CONGENITA, X-LINKED |
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