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| Cerebellar and Pontocerebellar Hypoplasia v1.11 | DKC1 | Zornitza Stark Publications for gene: DKC1 were set to PMID: 31269755; 26951492; 29081935 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v1.10 | DKC1 | Michelle Torres reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25940403; Phenotypes: X-linked dyskeratosis congenita (MIM#305000), Hoyeraal-Hreidarsson Syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.54 | DKC1 | Zornitza Stark Marked gene: DKC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.54 | DKC1 | Zornitza Stark Gene: dkc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.54 | DKC1 | Zornitza Stark Classified gene: DKC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.54 | DKC1 | Zornitza Stark Gene: dkc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.53 | DKC1 |
Elena Savva gene: DKC1 was added gene: DKC1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review 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 PMID: 31269755; 26951492; 29081935 Phenotypes for gene: DKC1 were set to Dyskeratosis congenita, X-linked 305000; Hoyeraal-Hreidarsson Syndrome Review for gene: DKC1 was set to GREEN Added comment: OMIM - Cerebellar ataxia (seen in HHS variant), Cerebellar hypoplasia (seen in HHS variant) Hoyeraal-Hreidarsson Syndrome is the severe form of Dyskeratosis congenita PMID: 31269755 - 1 child with cerebellar hypoplasia, a hemizygous missense and Hoyeraal–Hreidarsson Syndrome* PMID: 26951492 - 1 child with pontocerebellar hypoplasia, a hemizygous missense and Hoyeraal–Hreidarsson Syndrome* PMID: 29081935 - 1 family (2 first cousins) with the same variant. One has DC, the other HHS and cerebellar hypoplasia* PMID: 24914498 - 1 baby (3 months old) with a missense in exon 3 and Hoyeraal-Hreidarsson syndrome and cerebellar atrophy. *All missense found close together in exon 11 Summary: is a common feature of severe Hoyeraal-Hreidarsson syndrome Sources: Expert Review |
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