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| Hereditary Neuropathy v2.39 | NDUFS6 | Sangavi Sivagnanasundram Classified gene: NDUFS6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v2.39 | NDUFS6 | Sangavi Sivagnanasundram Gene: ndufs6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v2.38 | NDUFS6 |
Sangavi Sivagnanasundram gene: NDUFS6 was added gene: NDUFS6 was added to Hereditary Neuropathy. Sources: Literature Mode of inheritance for gene: NDUFS6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFS6 were set to 41683799; 38549004; 38459834; 38217609 Phenotypes for gene: NDUFS6 were set to peripheral neuropathy MONDO:0020127 Review for gene: NDUFS6 was set to GREEN Added comment: >3 unrelated individuals with biallelic variants in NDUFS6 presenting with various neurological phenotypes with peripheral neuropathy as a presenting feature. Note: 38459834 reports homozygous c.309+5G>A in 5 individuals from 3 families. Sources: Literature |
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