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| Hereditary Neuropathy v2.35 | SPG7 | Sangavi Sivagnanasundram Publications for gene: SPG7 were set to 41062329; 40824590; 38549004; 37983191; 35348942; 32999401 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v2.34 | SPG7 |
Sangavi Sivagnanasundram gene: SPG7 was added gene: SPG7 was added to Hereditary Neuropathy. Sources: Literature Mode of inheritance for gene: SPG7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPG7 were set to 41062329; 40824590; 38549004; 37983191; 35348942; 32999401 Phenotypes for gene: SPG7 were set to hereditary spastic paraplegia 7, MONDO:0011803 Review for gene: SPG7 was set to RED Added comment: 35348942 - 1/5 individuals with biallelic variant in SPG7 and peripheral neuropathy as a presenting feature 38549004 - reports two individuals with biallelic variants in SPG7. Affected individuals had peripheral neuropathy as a presenting feature Note, the reported variants in these publications do have a high FAF in gnomAD v4.1. Rated Red given the population frequencies in gnomAD Sources: Literature |
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