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| Cerebral Palsy v1.410 | SLC6A3 | Lucy Spencer Classified gene: SLC6A3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.410 | SLC6A3 | Lucy Spencer Gene: slc6a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.409 | SLC6A3 |
Lucy Spencer gene: SLC6A3 was added gene: SLC6A3 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SLC6A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC6A3 were set to 33528536; 21112253; 33098801 Phenotypes for gene: SLC6A3 were set to Parkinsonism-dystonia, infantile, 1 MIM#613135 Review for gene: SLC6A3 was set to GREEN Added comment: PMID: 21112253 presents a clinical overview of 11 children with biallelic SLC6A3 mutations, 7 of which were initially diagnosed with CP. In addition, two more CP cohort studies with one patient each harboring SLC6A3 mutations. This review was originally entered for SLC5A6 in error and has now been moved here Sources: Literature |
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| Cerebral Palsy v1.144 | SLC5A6 |
Luisa Weiss gene: SLC5A6 was added gene: SLC5A6 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC5A6 were set to 33528536; 21112253; 33098801 Phenotypes for gene: SLC5A6 were set to Parkinsonism-dystonia, infantile, 1 MIM#613135 Review for gene: SLC5A6 was set to GREEN Added comment: 21112253 presents a clinical overview of 11 children with biallelic SLC6A3 mutations, 7 of which were initially diagnosed with CP. In addition, two more CP cohort studies with one patient each harboring SLC6A3 mutations. Sources: Literature |
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