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Article

An ITPR1 Variant in the IP3-ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral Palsy.

American journal of medical genetics. Part A - 1 Feb 2026

Ordaz Thania, Sundaramurthi Jagadish Chandrabose, Arterbery Adam S, Bagley Anita M, Gargano Michael A, Bauer Jeremy P, Danis Daniel, Giampietro Philip, Raney Ellen, Rekerle Lauren, Shingle Mallory, Davids Jon R, Robinson Peter N

Abstract excerpt

A de novo, missense variant in ITPR1-inositol 1,4,5-trisphosphate receptor type 1 (ITPR1), p.(Tyr567Cys), was identified by trio whole-genome sequencing in an individual diagnosed with Spinocerebellar ataxia 29 (SCA29) who was affected by cerebral palsy and global developmental delay. The variant affects a residue involved in Inositol 1,4,5-trisphosphate (IP3)-ITPR1 binding. Genotype-Phenotype correlation...

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Identifiers

PMID: 40968496
DOI: 10.1002/ajmg.a.64263

Genes

ITPR1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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An ITPR1 Variant in the IP3-ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral Palsy.PMID 40968496Read ↗

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