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| Early onset dystonia v1.133 | VPS11 | Sarah Leigh Classified gene: VPS11 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset dystonia v1.133 | VPS11 | Sarah Leigh Gene: vps11 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset dystonia v1.132 | VPS11 | Sarah Leigh reviewed gene: VPS11: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset dystonia v1.132 | VPS11 | Sarah Leigh Phenotypes for gene: VPS11 were changed from Neurodevelopmental disorder; Hypomyelination; Microcephaly; Infantile-onset dystonia; Adult-onset dystonia; Spasticity to ?Dystonia 32, OMIM:619637; dystonia 32, MONDO:0030486 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset dystonia v1.131 | VPS11 | Sarah Leigh Publications for gene: VPS11 were set to PMID: 33452836; 27120463; 27473128; 33871597 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset dystonia v1.130 | VPS11 |
Edoardo Monfrini gene: VPS11 was added gene: VPS11 was added to Early onset dystonia. Sources: Literature Mode of inheritance for gene: VPS11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS11 were set to PMID: 33452836; 27120463; 27473128; 33871597 Phenotypes for gene: VPS11 were set to Neurodevelopmental disorder; Hypomyelination; Microcephaly; Infantile-onset dystonia; Adult-onset dystonia; Spasticity Penetrance for gene: VPS11 were set to Complete Review for gene: VPS11 was set to GREEN gene: VPS11 was marked as current diagnostic Added comment: Early-onset patients present hypomyelination, developmental delay, spasticity and dystonia. A single adult-onset generalized dystonic patient without additional neurologic signs has been reported. This genetic association needs additional cases to be definitively confirmed. Sources: Literature |
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