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Cerebral Palsy v1.157 SLC5A6 Zornitza Stark Marked gene: SLC5A6 as ready
Cerebral Palsy v1.157 SLC5A6 Zornitza Stark Gene: slc5a6 has been classified as Green List (High Evidence).
Cerebral Palsy v1.157 SLC5A6 Zornitza Stark Classified gene: SLC5A6 as Green List (high evidence)
Cerebral Palsy v1.157 SLC5A6 Zornitza Stark Gene: slc5a6 has been classified as Green List (High Evidence).
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