Hereditary spastic paraplegia - childhood onsetGene: EXOSC3
Comment on list classification: Rating Amber as only two families have been reported to date with early-onset spastic paraplegia associated with biallelic variants in this gene. Other features included variable cognitive impairment and cerebellar atrophy but normal pons.
Created: 23 Nov 2021, 1:24 p.m. | Last Modified: 23 Nov 2021, 1:24 p.m.
Panel Version: 2.108
Gene: exosc3 has been classified as Amber List (Moderate Evidence).
gene: EXOSC3 was added gene: EXOSC3 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOSC3 were set to 25149867; 23975261 Phenotypes for gene: EXOSC3 were set to Complicated hereditary spastic paraplegia Review for gene: EXOSC3 was set to AMBER