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| Hereditary Neuropathy v2.1 | AP5Z1 |
Sangavi Sivagnanasundram gene: AP5Z1 was added gene: AP5Z1 was added to Hereditary Neuropathy. Sources: Literature Mode of inheritance for gene: AP5Z1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP5Z1 were set to 27606357; 26085577 Phenotypes for gene: AP5Z1 were set to AP5Z1-related neuropathy; hereditary spastic paraplegia 48, MONDO:0013342 Review for gene: AP5Z1 was set to GREEN Added comment: Five affected individuals presented with neuropathy with biallelic loss-of-function AP5Z1 variants causing a complex phenotype comprising hereditary spastic paraplegia 48, parkinsonism and cognitive impairment. Sources: Literature |
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