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| Genetic Epilepsy v0.2172 | IARS2 | Elena Savva Marked gene: IARS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2172 | IARS2 | Elena Savva Gene: iars2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2172 | IARS2 |
Elena Savva gene: IARS2 was added gene: IARS2 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IARS2 were set to PMID: 30041933 Phenotypes for gene: IARS2 were set to Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia MIM#616007 Review for gene: IARS2 was set to RED Added comment: PMID: 30041933 - Japanese sibling pair presented with Leigh syndrome and infantile spasms. The siblings were identified with compound heterozygous missense mutations p.[(Phe227Ser)];[(Arg817His)]. No functional studies to support the pathogenicity of the missense variants Sources: Literature |
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