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| Ataxia v2.154 | NEU1 | Bryony Thompson Classified gene: NEU1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.154 | NEU1 | Bryony Thompson Gene: neu1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.153 | NEU1 |
Bryony Thompson gene: NEU1 was added gene: NEU1 was added to Ataxia. Sources: Literature Mode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEU1 were set to 39482827; 38600684; 33516873; 32753397; 32472645 Phenotypes for gene: NEU1 were set to sialidosis type 1, MONDO:0019346 Review for gene: NEU1 was set to GREEN Added comment: NEU1 encodes the lysosomal sialidase Neu1. Biallelic loss‑of‑function variants in NEU1 cause sialidosis type 1, an autosomal recessive lysosomal storage disorder characterised by progressive myoclonic ataxia, myoclonus, seizures and visual impairment. Functional assays in patient‑derived iPSC neurons and HEK293T cells demonstrate reduced Neu1 protein and enzymatic activity, supporting loss‑of‑function as the disease mechanism. Sources: Literature |
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