| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.2319 | XPR1 | Elena Savva Marked gene: XPR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2319 | XPR1 | Elena Savva Gene: xpr1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2319 | XPR1 | Elena Savva Classified gene: XPR1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2319 | XPR1 | Elena Savva Gene: xpr1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2318 | XPR1 |
Elena Savva gene: XPR1 was added gene: XPR1 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: XPR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: XPR1 were set to PMID: 33433330 Phenotypes for gene: XPR1 were set to Basal ganglia calcification, idiopathic, 6 MIM#616413 Review for gene: XPR1 was set to AMBER Added comment: Seizures (in some patients) listed in OMIM PMID: 33433330 - chet proband (PTC, missense) with paroxysmal kinesigenic dyskinesia with infantile convulsions, and generalized tonic-clonic seizures (GTCS) at the age of 2 years. Both parents were unaffected. - Only missense in AD disease had been reported. - Reviews literature, notes seizures 2/12 unrelated individuals, where an additional proband was ?seizures? Sources: Literature |
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