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| Dystonia and Chorea v1.1 | COA7 |
Bryony Thompson changed review comment from: PMID 37750949 reports three unrelated families (three patients) with biallelic COA7 missense variants and a COA7‑related recessive mitochondrial disorder characterised by cerebellar ataxia, axonal neuropathy, dystonia and parkinsonism; PMID 37264311 adds one adult patient homozygous for the same variant, expanding the phenotype to adult‑onset parkinsonism. Across four families (three independent observations) the gene–disease association meets Criterion A, as well as Criteria D and E, supporting inclusion of COA7 on the Early‑onset Parkinson disease panel. Sources: Literature; to: PMID 37750949 reports three unrelated families (three patients) with biallelic COA7 missense variants and a COA7‑related recessive mitochondrial disorder characterised by cerebellar ataxia, axonal neuropathy, dystonia and Parkinsonism; PMID 37264311 adds one adult patient homozygous for the same variant, expanding the phenotype to adult‑onset Parkinsonism and dystonia. Sources: Literature |
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| Dystonia and Chorea v1.1 | Bryony Thompson Copied gene COA7 from panel Early-onset Parkinson disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia and Chorea v1.1 | COA7 |
Bryony Thompson gene: COA7 was added gene: COA7 was added to Dystonia and Chorea. Sources: Expert Review Green,Literature Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COA7 were set to 37750949; 37264311 Phenotypes for gene: COA7 were set to spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, MONDO:0020770 |
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