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| Paroxysmal Dyskinesia v0.112 | GABRB3 | Zornitza Stark Marked gene: GABRB3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.112 | GABRB3 | Zornitza Stark Gene: gabrb3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.112 | GABRB3 | Zornitza Stark Classified gene: GABRB3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.112 | GABRB3 | Zornitza Stark Gene: gabrb3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.111 | GABRB3 |
Michelle Torres gene: GABRB3 was added gene: GABRB3 was added to Paroxysmal Dyskinesia. 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. Gain-of-function 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 either. Sources: Literature |
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