| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia - adult onset v0.175 | NPC1 | Bryony Thompson Marked gene: NPC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.175 | NPC1 | Bryony Thompson Gene: npc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.175 | NPC1 | Bryony Thompson Classified gene: NPC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.175 | NPC1 | Bryony Thompson Gene: npc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.174 | NPC1 |
Bryony Thompson gene: NPC1 was added gene: NPC1 was added to Ataxia - adult onset. Sources: Literature Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPC1 were set to 10480349; 17003072; 25497598; 33228797 Phenotypes for gene: NPC1 were set to Niemann-Pick disease, type C1 MONDO:0009757; ataxia Review for gene: NPC1 was set to GREEN gene: NPC1 was marked as current diagnostic Added comment: Ataxia can be a prominent and presenting feature of Niemann-Pick disease. Both paediatric and adult-onset ataxia has been reported with high prevalence. Sources: Literature |
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