| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Early-onset Parkinson disease v3.10 | GNAO1 | Bryony Thompson Marked gene: GNAO1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v3.10 | GNAO1 | Bryony Thompson Gene: gnao1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v3.10 | GNAO1 | Bryony Thompson Classified gene: GNAO1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v3.10 | GNAO1 | Bryony Thompson Gene: gnao1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v3.9 | GNAO1 |
Bryony Thompson gene: GNAO1 was added gene: GNAO1 was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: GNAO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GNAO1 were set to 38358016; 35722775 Phenotypes for gene: GNAO1 were set to movement disorder, MONDO:0005395 Review for gene: GNAO1 was set to GREEN Added comment: PMID 35722775 reports 24 individuals from 20 families carrying heterozygous GNAO1 variants, of whom seven families (seven individuals) present with adolescent‑ or adult‑onset parkinsonism with dystonia. PMID 38358016 reports a single child (onset ~9 years) with early‑onset parkinsonism caused by a de novo missense variant. Combined, eight families (eight individuals) with GNAO1‑related parkinsonism (movement disorder) have been described, all monoallelic loss‑of‑function alleles, fitting the Early‑onset Parkinson disease panel’s focus on abnormal extrapyramidal motor function. Sources: Literature |
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