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| Hereditary neuropathy or pain disorder v1.18 | UBA5 |
Arina Puzriakova gene: UBA5 was added gene: UBA5 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: UBA5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UBA5 were set to 32179706 Phenotypes for gene: UBA5 were set to Hypomyelinating neuropathy Added comment: Note that UBA5 variants have been associated with a range of neurological phenotypes including epilepsy, ID and ataxia. PMID: 32179706 (2020) - Five affected individuals from a consanguineous family presenting with a severe congenital neuropathy causing early death in infancy. Some in vitro functional data included. Due to early mortality, unclear whether additional features previously associated with UBA5 variants would have developed. Sources: Literature |
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