| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.2050 | DARS2 | Zornitza Stark Publications for gene: DARS2 were set to 17384640; 15002045; 16788019; 30352563 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2049 | DARS2 | Zornitza Stark Classified gene: DARS2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2049 | DARS2 | Zornitza Stark Gene: dars2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2038 | DARS2 | Andrew Fennell reviewed gene: DARS2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 34104671; Phenotypes: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1318 | DARS2 | Zornitza Stark Marked gene: DARS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1318 | DARS2 | Zornitza Stark Gene: dars2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1318 | DARS2 |
Zornitza Stark gene: DARS2 was added gene: DARS2 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DARS2 were set to 17384640; 15002045; 16788019; 30352563 Phenotypes for gene: DARS2 were set to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105 Review for gene: DARS2 was set to RED Added comment: Well established gene-disease association. Affected individuals typically present with slowly progressive cerebellar ataxia, spasticity, and dorsal column dysfunction, sometimes with a mild cognitive deficit or decline. Single individual reported with seizures in PMID 30352563. Sources: Literature |
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