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| Ataxia v2.122 | CTNNB1 |
Sangavi Sivagnanasundram gene: CTNNB1 was added gene: CTNNB1 was added to Ataxia. Sources: Literature Mode of inheritance for gene: CTNNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CTNNB1 were set to 39935833; 35880249 Phenotypes for gene: CTNNB1 were set to CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy, MONDO:0100571 Review for gene: CTNNB1 was set to GREEN Added comment: Ataxia is a presenting feature of this GDA. PMID 35880249 reports 1 individual from 1 family and PMID 39935833 reports 2 individuals from 2 families, all with de novo heterozygous CTNNB1 variants presenting with neurodevelopmental disorder with spastic diplegia, visual defects, microcephaly, severe developmental delay and ataxic gait. Sources: Literature |
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