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| Dystonia - complex v0.130 | SQSTM1 | Zornitza Stark Phenotypes for gene: SQSTM1 were changed from Myopathy, distal, with rimmed vacuoles 617158 to Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.129 | SQSTM1 | Zornitza Stark reviewed gene: SQSTM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.69 | SQSTM1 | Zornitza Stark Marked gene: SQSTM1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.69 | SQSTM1 | Zornitza Stark Gene: sqstm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.69 | SQSTM1 | Zornitza Stark Classified gene: SQSTM1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.69 | SQSTM1 | Zornitza Stark Gene: sqstm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.68 | SQSTM1 |
Elena Savva gene: SQSTM1 was added gene: SQSTM1 was added to Dystonia - complex. Sources: Literature Mode of inheritance for gene: SQSTM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SQSTM1 were set to PMID: 27545679 Phenotypes for gene: SQSTM1 were set to Myopathy, distal, with rimmed vacuoles 617158 Review for gene: SQSTM1 was set to GREEN Added comment: PMID: 27545679 - 9 patients (4 families) with childhood/adolescent onset neurodegeneration syndrome. 7/9 patients presented with dystonia. None noted to have myopathy. Sources: Literature |
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