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| Dystonia - complex v0.154 | UNC80 | Zornitza Stark Phenotypes for gene: UNC80 were changed from hypotonia; severe intellectual disability; dyskinesia; dysmorphism to Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801; MONDO:0014777 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.153 | UNC80 | Zornitza Stark reviewed gene: UNC80: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801, MONDO:0014777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.101 | UNC80 | Zornitza Stark Marked gene: UNC80 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.101 | UNC80 | Zornitza Stark Gene: unc80 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.54 | UNC80 |
Bryony Thompson gene: UNC80 was added gene: UNC80 was added to Dystonia - complex. Sources: Expert list Mode of inheritance for gene: UNC80 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UNC80 were set to 26545877 Phenotypes for gene: UNC80 were set to hypotonia; severe intellectual disability; dyskinesia; dysmorphism Review for gene: UNC80 was set to RED Added comment: Two consanguineous Bedouin Israeli families homozygous for the same variantc.151C>T, p.(R51*) with dystonia as a feature of the condition. No other reported evidence for dystonia in the context of this condition. Sources: Expert list |
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