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| Ataxia v2.145 | PIEZO2 |
Sangavi Sivagnanasundram gene: PIEZO2 was added gene: PIEZO2 was added to Ataxia. Sources: Literature Mode of inheritance for gene: PIEZO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIEZO2 were set to 27974811; 27653382 Phenotypes for gene: PIEZO2 were set to arthrogryposis, distal, with impaired proprioception and touch, MONDO:0014941 Review for gene: PIEZO2 was set to GREEN Added comment: Distal arthrogryposis with impaired proprioception and touch characterised by reduced proprioceptive and tactile sensation, resulting in ataxia, impaired walking, dysmetria, muscle weakness and atrophy, and progressive joint contractures. PMID 27974811 reports 1 individual from a consanguineous family (2nd-degree cousins) with a biallelic stop PIEZO2 variant causing distal arthrogryposis with sensory ataxia, proprioceptive loss, scoliosis and distal muscle weakness PMID 27653382 reports 2 families with compound heterozygous truncating variants (and one missense variant) causing sensory ataxia with proprioceptive loss, progressive scoliosis and congenital joint contractures. Sources: Literature |
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