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Hereditary spastic paraplegia v1.198 | UBAP1 | Louise Daugherty Classified gene: UBAP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary spastic paraplegia v1.198 | UBAP1 | Louise Daugherty Gene: ubap1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary spastic paraplegia v1.197 | UBAP1 |
Louise Daugherty gene: UBAP1 was added gene: UBAP1 was added to Hereditary spastic paraplegia. Sources: Literature Mode of inheritance for gene: UBAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: UBAP1 were set to 30929741 Phenotypes for gene: UBAP1 were set to Hereditary spastic paraplegia Review for gene: UBAP1 was set to GREEN Added comment: PMID:30929741 reported the identification of an autosomal-dominant gene for hereditary spastic paraplegia (HSP) in 10 families that are of diverse geographic origin and whose affected members all carry unique truncating changes in a circumscript region of UBAP1. Sources: Literature |