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| Ataxia v2.133 | POLR2A |
Sangavi Sivagnanasundram gene: POLR2A was added gene: POLR2A was added to Ataxia. Sources: Literature Mode of inheritance for gene: POLR2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POLR2A were set to 33665635 Phenotypes for gene: POLR2A were set to neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, MONDO:0032829 Review for gene: POLR2A was set to GREEN Added comment: Ataxia isn't a prominent feature in all POLR2A-affected individuals; however, it can be a presenting feature in most individuals. PMID 33665635 reports 7/12 individuals with heterozygous POLR2A variants presenting with a neurodevelopmental disorder featuring ataxia, developmental delay, seizures, hypotonia, joint hypermobility and short stature. Sources: Literature |
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