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| Hereditary Neuropathy v2.8 | RNASEH1 |
Sangavi Sivagnanasundram gene: RNASEH1 was added gene: RNASEH1 was added to Hereditary Neuropathy. Sources: Literature Mode of inheritance for gene: RNASEH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH1 were set to 28508084; 26094573 Phenotypes for gene: RNASEH1 were set to progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2, MONDO:0014656 Review for gene: RNASEH1 was set to GREEN Added comment: At least 4 unrelated individuals reported with biallelic variants in RNASEH1 presenting with PEO and neuropathy (sensory/motor neuropathy). Three of the reported individuals with neuropathy were confirmed via EMG. Sources: Literature |
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