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| Paroxysmal Dyskinesia v0.50 | SLC16A2 | Zornitza Stark Marked gene: SLC16A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.50 | SLC16A2 | Zornitza Stark Gene: slc16a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.50 | SLC16A2 | Zornitza Stark Phenotypes for gene: SLC16A2 were changed from paroxysmal dyskinesia (passive movement trigger); neurodevelopmental disability, hypotonia to Allan-Herndon-Dudley syndrome, MIM# 300523; paroxysmal dyskinesia (passive movement trigger); neurodevelopmental disability, hypotonia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.49 | SLC16A2 | Zornitza Stark Publications for gene: SLC16A2 were set to PMID 20301789 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.48 | SLC16A2 | Zornitza Stark Mode of inheritance for gene: SLC16A2 was changed from Other to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.47 | SLC16A2 | Zornitza Stark Classified gene: SLC16A2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.47 | SLC16A2 | Zornitza Stark Gene: slc16a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.46 | SLC16A2 | Zornitza Stark reviewed gene: SLC16A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15980113, 31410843, 20301789; Phenotypes: Allan-Herndon-Dudley syndrome, MIM# 300523; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.42 | SLC16A2 |
Eunice Chan gene: SLC16A2 was added gene: SLC16A2 was added to Paroxysmal Dyskinesia. Sources: Expert list Mode of inheritance for gene: SLC16A2 was set to Other Publications for gene: SLC16A2 were set to PMID 20301789 Phenotypes for gene: SLC16A2 were set to paroxysmal dyskinesia (passive movement trigger); neurodevelopmental disability, hypotonia Added comment: X-linked inheritance Allan-Herndon-Dudley Syndrome paroxysmal dystonic dyskinesia triggered by poassive movements, excitement, crying High fT3 also characteristic Please also include on dystonia-Complex panel Sources: Expert list |
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