Hereditary spastic paraplegiaGene: POLR3A
Spasticity is a reported feature in HSP
Created: 16 Jul 2018, 9:15 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Autosomal Recessive Ataxia; Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
Gene: polr3a has been classified as Green List (High Evidence).
POLR3A was added to Hereditary spastic paraplegia panel. Sources: Literature
POLR3A was created by Louise Daugherty