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| Ataxia - paediatric v0.187 | SAR1B | Zornitza Stark Marked gene: SAR1B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.187 | SAR1B | Zornitza Stark Gene: sar1b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.36 | SAR1B |
Bryony Thompson gene: SAR1B was added gene: SAR1B was added to Ataxia - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: SAR1B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SAR1B were set to Chylomicron retention disease, 246700 Review for gene: SAR1B was set to RED Added comment: Ataxia is not a reported prominent feature of the condition. Neurological symptoms are secondary to malabsorption. Sources: Expert list |
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