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| Ataxia - paediatric v0.188 | MTPAP | Zornitza Stark Marked gene: MTPAP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.188 | MTPAP | Zornitza Stark Gene: mtpap has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.143 | MTPAP | Bryony Thompson reviewed gene: MTPAP: Rating: AMBER; Mode of pathogenicity: None; Publications: 20970105, 26319014, 25008111; Phenotypes: Spastic ataxia 4, autosomal recessive MIM#613672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.0 | MTPAP |
Bryony Thompson gene: MTPAP was added gene: MTPAP was added to Ataxia - paediatric_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber Mode of inheritance for gene: MTPAP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTPAP were set to 20970105; 26319014; 25008111 Phenotypes for gene: MTPAP were set to ?Ataxia, spastic, 4,; Autosomal recessive spastic ataxia 4, 613672 |
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