| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Dystonia - isolated/combined v1.35 | GABRB3 | Zornitza Stark Marked gene: GABRB3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.35 | GABRB3 | Zornitza Stark Gene: gabrb3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.35 | GABRB3 | Zornitza Stark Classified gene: GABRB3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.35 | GABRB3 | Zornitza Stark Gene: gabrb3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.34 | GABRB3 | Michelle Torres reviewed gene: GABRB3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37647766; Phenotypes: Developmental and epileptic encephalopathy 43 MIM#617113; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.34 | GABRB3 | Michelle Torres Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.34 | GABRB3 |
Michelle Torres gene: GABRB3 was added gene: GABRB3 was added to Dystonia - isolated/combined. Sources: Literature Mode of inheritance for gene: GABRB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GABRB3 were set to 37647766 Phenotypes for gene: GABRB3 were set to Developmental and epileptic encephalopathy 43 MIM#617113 Mode of pathogenicity for gene: GABRB3 was set to Other Review for gene: GABRB3 was set to GREEN Added comment: Voltage-clamp electrophysiology studies have shown that gain-of-function variants clustering in the transmembrane regions part of the channel pore result in a more severe phenotype, including movement disorders (dystonia and dyskinesia) and microcephaly. Variants clustered in the coupling loops responsible for receptor activation are not associated with movement disorder and microcephaly. LoF variants have not been associated with microcephaly and movement disorders. Sources: Literature |
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