| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Dystonia - isolated/combined v1.12 | C9orf3 |
Zornitza Stark changed review comment from: Dystonia-31 (DYT31) is an autosomal recessive progressive neurologic disorder characterized by involuntary muscle twisting movements and postural abnormalities affecting the upper and lower limbs, neck, face, and trunk. Some patients may have orofacial dyskinesia resulting in articulation and swallowing difficulties. The age at onset ranges from childhood to young adulthood. There are usually no additional neurologic symptoms, although late-onset parkinsonism was reported in 1 family. 5 individuals from 4 unrelated families reported. Sources: Literature; to: Dystonia-31 (DYT31) is an autosomal recessive progressive neurologic disorder characterized by involuntary muscle twisting movements and postural abnormalities affecting the upper and lower limbs, neck, face, and trunk. Some patients may have orofacial dyskinesia resulting in articulation and swallowing difficulties. The age at onset ranges from childhood to young adulthood. There are usually no additional neurologic symptoms, although late-onset parkinsonism was reported in 1 family. 5 individuals from 4 unrelated families reported. HGNC approved name is AOPEP. Sources: Literature |
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| Dystonia - isolated/combined v1.12 | C9orf3 | Zornitza Stark Marked gene: C9orf3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.12 | C9orf3 | Zornitza Stark Gene: c9orf3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.12 | C9orf3 | Zornitza Stark Classified gene: C9orf3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.12 | C9orf3 | Zornitza Stark Gene: c9orf3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.11 | C9orf3 |
Zornitza Stark gene: C9orf3 was added gene: C9orf3 was added to Dystonia - isolated/combined. Sources: Literature new gene name tags were added to gene: C9orf3. Mode of inheritance for gene: C9orf3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C9orf3 were set to 34596301 Phenotypes for gene: C9orf3 were set to Dystonia 31, MIM# 619565 Review for gene: C9orf3 was set to GREEN Added comment: Dystonia-31 (DYT31) is an autosomal recessive progressive neurologic disorder characterized by involuntary muscle twisting movements and postural abnormalities affecting the upper and lower limbs, neck, face, and trunk. Some patients may have orofacial dyskinesia resulting in articulation and swallowing difficulties. The age at onset ranges from childhood to young adulthood. There are usually no additional neurologic symptoms, although late-onset parkinsonism was reported in 1 family. 5 individuals from 4 unrelated families reported. Sources: Literature |
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