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| Ataxia - paediatric v0.187 | CHMP1A | Zornitza Stark Marked gene: CHMP1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.187 | CHMP1A | Zornitza Stark Gene: chmp1a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.23 | CHMP1A |
Bryony Thompson gene: CHMP1A was added gene: CHMP1A was added to Ataxia - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: CHMP1A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHMP1A were set to Pontocerebellar hypoplasia, type 8, 614961 Review for gene: CHMP1A was set to RED Added comment: Ataxia is not a prominent feature of the phenotype. Sources: Expert list |
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