| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Dystonia and Chorea v1.13 | FBXO31 | Bryony Thompson Marked gene: FBXO31 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia and Chorea v1.13 | FBXO31 | Bryony Thompson Gene: fbxo31 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia and Chorea v1.13 | FBXO31 | Bryony Thompson Classified gene: FBXO31 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia and Chorea v1.13 | FBXO31 | Bryony Thompson Gene: fbxo31 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia and Chorea v1.12 | FBXO31 |
Bryony Thompson gene: FBXO31 was added gene: FBXO31 was added to Dystonia and Chorea. Sources: Literature Mode of inheritance for gene: FBXO31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FBXO31 were set to 41858232; 33675180 Phenotypes for gene: FBXO31 were set to cerebral palsy, MONDO:0006497 Review for gene: FBXO31 was set to GREEN Added comment: PMID 33675180 and PMID 41858232 report 7 individuals from 7 families with heterozygous de novo FBXO31 c.1000G>A (p.Asp334Asn) missense variants presenting with spastic‑dystonic cerebral palsy characterised by spasticity, dystonia, intellectual disability and speech impairment, often accompanied by ADHD, anxiety and autistic traits. Functional assays reveal a neomorphic gain‑of‑function effect, though rescue studies are lacking. Sources: Literature |
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