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| Childhood onset hereditary spastic paraplegia v9.6 | ATP1A3 |
Katherine Schon gene: ATP1A3 was added gene: ATP1A3 was added to Childhood onset hereditary spastic paraplegia. Sources: Literature Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP1A3 were set to PMID: 37043503 Phenotypes for gene: ATP1A3 were set to spasticity; developmental delay; intellectual disability Penetrance for gene: ATP1A3 were set to Complete Review for gene: ATP1A3 was set to GREEN Added comment: Recurrent de novo pathogenic variant reported in nine individuals with childhood onset of phenotypes resembling complex hereditary spastic paraplegia or idiopathic spastic cerebral palsy. Sources: Literature |
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