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The variant affects a residue involved in Inositol 1,4,5\u2010trisphosphate (IP3)\u2010ITPR1 binding. Genotype\u2013Phenotype correlation analysis of the set of missense variants affecting nine residues involved in IP3\u2010ITPR1 binding in the current case and 170 reports of individuals with\n                    <jats:italic>ITPR1<\/jats:italic>\n                    variants showed a significantly higher frequency of phenotypic features related to neurodevelopmental delay in these variants than in other\n                    <jats:italic>ITPR1<\/jats:italic>\n                    variants. Our proband was diagnosed with cerebral palsy, as were five other published individuals diagnosed with SCA29. Two of these individuals were siblings who were found to have the variant p.(Arg269Trp), also located in the IP3\u2010ITPR1 binding pocket. These observations suggest that genotype\u2013phenotype correlations exist in the\n                    <jats:italic>ITPR1<\/jats:italic>\n                    gene and underscore the importance of data sharing and reuse to elucidate the natural history of rare neurodevelopmental diseases.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.64263","type":"journal-article","created":{"date-parts":[[2025,9,19]],"date-time":"2025-09-19T04:59:51Z","timestamp":1758257991000},"page":"459-467","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["An\n                    <scp>ITPR1<\/scp>\n                    Variant in the\n                    <scp>IP3<\/scp>\n                    \u2010\n                    <scp>ITPR1<\/scp>\n                    Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral Palsy"],"prefix":"10.1002","volume":"200","author":[{"given":"Thania","family":"Ordaz","sequence":"first","affiliation":[{"name":"Shriners Children's  Mexico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jagadish Chandrabose","family":"Sundaramurthi","sequence":"additional","affiliation":[{"name":"The Jackson Laboratory for Genomic Medicine  Farmington Connecticut USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam S.","family":"Arterbery","sequence":"additional","affiliation":[{"name":"The Jackson Laboratory for Genomic Medicine  Farmington Connecticut USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita M.","family":"Bagley","sequence":"additional","affiliation":[{"name":"Shriners Children's, Northern California  Sacramento California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2157-3591","authenticated-orcid":false,"given":"Michael 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