| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Brain channelopathy v1.33 | SPR | Sarah Leigh Classified gene: SPR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain channelopathy v1.33 | SPR | Sarah Leigh Added comment: Comment on list classification: Recommedation from Arianna Tucci to add SPR to this panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain channelopathy v1.33 | SPR | Sarah Leigh Gene: spr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain channelopathy v1.32 | SPR |
Sarah Leigh gene: SPR was added gene: SPR was added to Brain channelopathy. Sources: Literature Mode of inheritance for gene: SPR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SPR were set to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716 Review for gene: SPR was set to GREEN Added comment: According to the recommendations of Arianna Tucci (Genomics England Clinical Fellow), the phenotypes associated with variants in SPR are not associated with epileptic seizures, rather with myoclonic movements as reported in the following publications: PMID 16650784: myoclonic jerks sometimes observed; PMID 21431957: myoclonic movements of hands and face; PMID 28189489 sudden stiffening of the whole body, extension of all extremities, and upward gaze lasting for several minutes often after meals in a 3 month old boy (including during a hospital stay), initially, mistaken for seizures, however 24h video-EEG showed no epileptiform discharges or any EEG correlate. Therefore this phenotype is relevant to the Brain channelopathy panel. Sources: Literature |
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