| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia - paediatric v0.265 | NUS1 | Zornitza Stark Marked gene: NUS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.265 | NUS1 | Zornitza Stark Gene: nus1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.265 | NUS1 | Zornitza Stark Phenotypes for gene: NUS1 were changed from Epilepsy, myoclonus, ataxia and scoliosis; ?Congenital disorder of glycosylation, type 1aa, 617082; Mental retardation, autosomal dominant 55, with seizures, 617831 to Epilepsy, myoclonus, ataxia and scoliosis; Mental retardation, autosomal dominant 55, with seizures, 617831 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.264 | NUS1 | Zornitza Stark Classified gene: NUS1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.264 | NUS1 | Zornitza Stark Gene: nus1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.263 | NUS1 |
Elena Savva gene: NUS1 was added gene: NUS1 was added to Ataxia - paediatric. Sources: Literature Mode of inheritance for gene: NUS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NUS1 were set to PMID: 31656175; 29100083 Phenotypes for gene: NUS1 were set to Epilepsy, myoclonus, ataxia and scoliosis; ?Congenital disorder of glycosylation, type 1aa, 617082; Mental retardation, autosomal dominant 55, with seizures, 617831 Review for gene: NUS1 was set to GREEN Added comment: PMID: 31656175 - 2 unrelated patients with the same de novo splice variant and ataxia. Splice variant undergoes partial NMD. PMID: 29100083 - 3 unrelated patients w/ 2 PTCs and an inframe exon 2 deletion. Only 1/3 was reported to have ataxia Sources: Literature |
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