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| Mendeliome v0.12713 | VPS16 | Ain Roesley Phenotypes for gene: VPS16 were changed from Dystonia 30, MIM#619291 to Dystonia 30, MIM#619291; mucopolysaccharidosis-like disorder, VPS16-related MONDO#0100365 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12712 | VPS16 | Ain Roesley Publications for gene: VPS16 were set to 32808683 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12712 | VPS16 | Ain Roesley Mode of inheritance for gene: VPS16 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12711 | VPS16 |
Ain Roesley changed review comment from: for AR MPS: 3 unrelated families - 2x hom c.2272‐18C>A and 1x hom p.Trp180Cys RNA and functional studies done on the splice variant for AD see review below; to: for AR MPS: 3 unrelated families - 2x hom c.2272‐18C>A and 1x hom p.Trp180Cys RNA and functional studies done on the splice variant for AD see review below PMID:34901436 suggests dystonia is transcript specific |
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| Mendeliome v0.12711 | VPS16 | Ain Roesley edited their review of gene: VPS16: Changed publications: 33938619, 34013567, 34901436 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12711 | VPS16 |
Ain Roesley changed review comment from: for AR MPS: 3 unrelated families - 2x hom c.2272‐18C>A and 1x het p.Trp180Cys RNA and functional studies done on the splice variant for AD see review below; to: for AR MPS: 3 unrelated families - 2x hom c.2272‐18C>A and 1x hom p.Trp180Cys RNA and functional studies done on the splice variant for AD see review below |
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| Mendeliome v0.12709 | VPS16 | Ain Roesley reviewed gene: VPS16: Rating: GREEN; Mode of pathogenicity: None; Publications: 33938619, 34013567; Phenotypes: mucopolysaccharidosis-like disorder, VPS16-related MONDO#0100365; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7458 | VPS16 | Zornitza Stark Phenotypes for gene: VPS16 were changed from Dystonia to Dystonia 30, MIM#619291 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7457 | VPS16 | Zornitza Stark edited their review of gene: VPS16: Changed phenotypes: Dystonia 30, MIM#619291 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4861 | VPS16 | Zornitza Stark edited their review of gene: VPS16: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4861 | VPS16 | Zornitza Stark Marked gene: VPS16 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4861 | VPS16 | Zornitza Stark Gene: vps16 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4861 | VPS16 | Zornitza Stark Classified gene: VPS16 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4861 | VPS16 | Zornitza Stark Gene: vps16 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4860 | VPS16 |
Zornitza Stark gene: VPS16 was added gene: VPS16 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: VPS16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: VPS16 were set to 32808683 Phenotypes for gene: VPS16 were set to Dystonia Added comment: 18 individuals reported with high-impact variants in VPS16 and a progressive early onset dystonia (median age 12 years, range 3–50 years), with prominent oromandibular, bulbar, cervical, and upper limb involvement. Progressive generalization ensued, although most remained ambulant, and only a minority (16%) lost the ability to walk in adulthood. Additional clinical features of mild to moderate intellectual disability and neuropsychiatric symptoms were present in approximately one‐third. In 4 individuals, magnetic resonance imaging (MRI) showed bilateral and symmetrical hypointensity of the globi pallidi and sometimes also the midbrain and dentate nuclei, suggestive of iron deposition. Mild generalized cerebral atrophy was also apparent in 4 individuals. Sources: Literature |
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