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| Ataxia v2.146 | SRPK3 |
Sangavi Sivagnanasundram gene: SRPK3 was added gene: SRPK3 was added to Ataxia. Sources: Literature Mode of inheritance for gene: SRPK3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: SRPK3 were set to 39073169 Phenotypes for gene: SRPK3 were set to intellectual developmental disorder, X-linked 114, MONDO:0975828 Review for gene: SRPK3 was set to AMBER Added comment: PMID 39073169 reports two individuals presenting with intellectual disability, agenesis of the corpus callosum, cerebellar atrophy, abnormal eye movements and progressive ataxia and X-linked variants in SRPK3. One of the variants c.1585G>A:p.Glu529Lys has a FAF of 0.006% in gnomAD v4.1 (96 hets and 32 hemizygotes globally). Supportive knockout zebrafish models recapitulated the ocular and motor phenotype, including evidence of ataxia. Sources: Literature |
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