Variant: rs398123015 

    present in Gene: CREB3;GBA2
    present in Chromosome: 9
    Position on Chromosome: 35737335
    Alleles of this Variant: C/T

rs398123015 in CREB3;GBA2 gene and SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE PMID 23332916 2013 Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.

PMID 30308956 2018 Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia.

PMID 26220345 2015 Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46).

PMID 23332917 2013 Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.

PMID 24252062 2014 A novel GBA2 gene missense mutation in spastic ataxia.

rs398123015 in CREB3;GBA2 gene and Spastic Paraplegia, Hereditary PMID 28832565 2017 Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.