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| Hereditary Spastic Paraplegia - adult onset v1.4 | COQ7 |
Elena Savva gene: COQ7 was added gene: COQ7 was added to Hereditary Spastic Paraplegia - adult onset. Sources: Literature Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ7 were set to PMID: 33215859 Phenotypes for gene: COQ7 were set to Hereditary spastic paraplegia, COQ7-related (MONDO#0019064) Review for gene: COQ7 was set to RED Added comment: PMID: 33215859: review of current and previous cohort finds three homozygous families with missense variants (p.(Leu111Pro) recurring, likely Iranian founder), with mod-severe progressive spastic paraplegia, moderate spastic paraparesis or moderate progressive spastic paraparesis . - No supportive functional studies to validate missense variants. Sources: Literature |
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