| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.2098 | PANK2 | Elena Savva Classified gene: PANK2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2098 | PANK2 | Elena Savva Gene: pank2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2098 | PANK2 | Elena Savva Classified gene: PANK2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2098 | PANK2 | Elena Savva Gene: pank2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2097 | PANK2 | Elena Savva Classified gene: PANK2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2097 | PANK2 | Elena Savva Gene: pank2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2097 | PANK2 | Elena Savva Marked gene: PANK2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2097 | PANK2 | Elena Savva Gene: pank2 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2096 | PANK2 |
Lauren Rogers gene: PANK2 was added gene: PANK2 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PANK2 were set to 27303611; 18462962 Phenotypes for gene: PANK2 were set to Neurodegeneration with brain iron accumulation 1 MIM#234200 Review for gene: PANK2 was set to RED Added comment: PMID: 27303611: A case report of 1x child with neurodegeneration with brain iron accumulation 1, with seizure onset age 4 with frequent falls, not gaining milestones, progressive muscle dystonia, neuro-regression, and multiple injury marks of different stages. They had 2nd degree consanguineous parents. They were compound heterozygous for p.(Leu385CysfsX13) and p.(Arg440Pro). PMID: 18462962: A case report of 1x child neurodegeneration with brain iron accumulation 1, with refractory severe dystonia resulting in essentially complete loss of motor control, and an episode of a reported single generalized tonic clonic seizure. They were homozygous for a p.(Ala382Val) Sources: Literature |
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