| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.48 | COASY | Bryony Thompson Marked gene: COASY as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.48 | COASY | Bryony Thompson Gene: coasy has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.48 | COASY | Bryony Thompson Classified gene: COASY as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.48 | COASY | Bryony Thompson Gene: coasy has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.47 | COASY |
Bryony Thompson gene: COASY was added gene: COASY was added to Ataxia. Sources: Literature Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COASY were set to 38750253; 36877387; 28489334 Phenotypes for gene: COASY were set to neurodegeneration with brain iron accumulation 6, MONDO:0014290 Review for gene: COASY was set to GREEN Added comment: PMID 38750253 reports 5 individuals from 4 families (3 independent qualifying families) with biallelic COASY loss‑of‑function variants; PMID 28489334 reports 2 siblings from 1 family with compound heterozygous missense variants; PMID 36877387 reports 1 individual from 1 family with a compound heterozygous nonsense‑missense genotype. All cases present with early‑onset neurodegeneration often including ataxia, epilepsy, developmental delay and cerebellar atrophy or brain iron accumulation. COASY‑associated neurodegeneration frequently manifests with childhood‑onset ataxia and cerebellar involvement, making it directly relevant to the Ataxia panel which targets disorders where ataxia is a core feature. Sources: Literature |
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