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Ataxia - paediatric v0.187 | PCDH12 | Zornitza Stark Marked gene: PCDH12 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - paediatric v0.187 | PCDH12 | Zornitza Stark Gene: pcdh12 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - paediatric v0.180 | PCDH12 | Bryony Thompson reviewed gene: PCDH12: Rating: RED; Mode of pathogenicity: None; Publications: 30459466; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - paediatric v0.0 | PCDH12 |
Bryony Thompson gene: PCDH12 was added gene: PCDH12 was added to Ataxia - paediatric_RMH. Sources: Expert Review Red,GeneReviews,Royal Melbourne Hospital Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCDH12 were set to 30459466 Phenotypes for gene: PCDH12 were set to cerebellar ataxia, dystonia, retinopathy, and dysmorphism |