| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.2239 | NR2F1 | Zornitza Stark Marked gene: NR2F1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2239 | NR2F1 | Zornitza Stark Gene: nr2f1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2239 | NR2F1 | Zornitza Stark Classified gene: NR2F1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2239 | NR2F1 | Zornitza Stark Gene: nr2f1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2060 | NR2F1 |
Rylee Peters gene: NR2F1 was added gene: NR2F1 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: NR2F1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NR2F1 were set to 32275123 Phenotypes for gene: NR2F1 were set to Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722 Review for gene: NR2F1 was set to GREEN Added comment: PMID: 32275123 - Cohort of 54 individuals with a deletion of or likely pathogenic variant in NR2F1, including previously published individuals with Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS). -24/46 (52%) individuals described with seizures, some of which include infantile spasms. - Rech et al. (2020) also described that mutations in the DBD were associated with a higher prevalence of motor delay, the inability to walk unassisted, the absence of speech, seizures, and sensitivity to touch compared to other types of mutations. Sources: Literature |
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