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| Ataxia - paediatric v0.187 | PCYT2 | Zornitza Stark Marked gene: PCYT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.187 | PCYT2 | Zornitza Stark Gene: pcyt2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.30 | PCYT2 |
Bryony Thompson gene: PCYT2 was added gene: PCYT2 was added to Ataxia - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: PCYT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCYT2 were set to 31637422 Phenotypes for gene: PCYT2 were set to global developmental delay; regression; spastic parapesis or tetraparesis; epilepsy; progressive cerebral and cerebellar atrophy Review for gene: PCYT2 was set to RED Added comment: Ataxia is not a prominent feature of the condition. Sources: Expert list |
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