| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Dystonia - isolated/combined v1.21 | EIF2AK2 | Zornitza Stark Marked gene: EIF2AK2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.21 | EIF2AK2 | Zornitza Stark Gene: eif2ak2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.21 | EIF2AK2 | Zornitza Stark Phenotypes for gene: EIF2AK2 were changed from early onset, mostly isolated generalised dystonia; dysarthria; tremor to Dystonia 33, MIM# 619687 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.20 | EIF2AK2 | Zornitza Stark Mode of pathogenicity for gene: EIF2AK2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.19 | EIF2AK2 | Zornitza Stark Classified gene: EIF2AK2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.19 | EIF2AK2 | Zornitza Stark Gene: eif2ak2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.18 | EIF2AK2 | Zornitza Stark reviewed gene: EIF2AK2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia 33, MIM# 619687; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.18 | EIF2AK2 |
Eunice Chan gene: EIF2AK2 was added gene: EIF2AK2 was added to Dystonia - isolated/combined. Sources: Expert Review Mode of inheritance for gene: EIF2AK2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: EIF2AK2 were set to PMID: 35146068; PMID: 33236446; PMID: 33866603 Phenotypes for gene: EIF2AK2 were set to early onset, mostly isolated generalised dystonia; dysarthria; tremor Mode of pathogenicity for gene: EIF2AK2 was set to Other Review for gene: EIF2AK2 was set to GREEN Added comment: Mode of pathogenicity - Likely gain of function/ persistent activation of EIF2AK2-eIF2a pathway Partial response to DBS Sources: Expert Review |
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