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| Ataxia v2.124 | EIF2AK2 |
Sangavi Sivagnanasundram gene: EIF2AK2 was added gene: EIF2AK2 was added to Ataxia. Sources: Literature Mode of inheritance for gene: EIF2AK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EIF2AK2 were set to 37284702; 32197074 Phenotypes for gene: EIF2AK2 were set to leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, MONDO:0030035 Review for gene: EIF2AK2 was set to GREEN Added comment: PMID 32197074 reports six individuals with heterozygous missense EIF2AK2 variants presenting with developmental delay, leukoencephalopathy and progressive ataxia (gait or truncal ataxia. PMID 37284702 reports another individual with a de novo heterozygous variant and nystagmus, hypotonia, global developmental delay, ataxia and spasticity. Brain MRI at the age of two revealed diffuse hypomyelination. All the reported missense variants are rare or absent in gnomAD v4. Sources: Literature |
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