Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894743
rs104894743
ARX
0.010 GeneticVariation BEFREE A GCG trinucleotide expansion (GCG)10+7 and a deletion of 1,517 bp in the ARX gene have also been found in association with the West syndrome, and a missense mutation (1058C>T) in a family with a newly recognized form of myoclonic epilepsy, severe mental retardation, and spastic paraplegia [Scheffer et al., 2002: Neurology, in press]. 12376946

2002
dbSNP: rs121434441
rs121434441
KIF5A
0.010 GeneticVariation BEFREE Spastic paraplegia mutation N256S in the neuronal microtubule motor KIF5A disrupts axonal transport in a Drosophila HSP model. 23209432

2012
dbSNP: rs121434444
rs121434444
KIF5A
0.010 GeneticVariation BEFREE WGS and replication studies identified three pathogenic variants in PPMS patients that cause neurological disorders sharing features with MS: KIF5A p.Ala361Val in spastic paraplegia 10; MLC1 p.Pro92Ser in megalencephalic leukodystrophy with subcortical cysts, and REEP1 c.606 + 43G>T in Spastic Paraplegia 31. 29908077

2018
dbSNP: rs121908345
rs121908345
MLC1
0.010 GeneticVariation BEFREE WGS and replication studies identified three pathogenic variants in PPMS patients that cause neurological disorders sharing features with MS: KIF5A p.Ala361Val in spastic paraplegia 10; MLC1 p.Pro92Ser in megalencephalic leukodystrophy with subcortical cysts, and REEP1 c.606 + 43G>T in Spastic Paraplegia 31. 29908077

2018
dbSNP: rs1331505548
rs1331505548
KIF5C
0.010 GeneticVariation BEFREE Spastic paraplegia mutation N256S in the neuronal microtubule motor KIF5A disrupts axonal transport in a Drosophila HSP model. 23209432

2012
dbSNP: rs1364050643
rs1364050643
REEP1
0.010 GeneticVariation BEFREE WGS and replication studies identified three pathogenic variants in PPMS patients that cause neurological disorders sharing features with MS: KIF5A p.Ala361Val in spastic paraplegia 10; MLC1 p.Pro92Ser in megalencephalic leukodystrophy with subcortical cysts, and REEP1 c.606 + 43G>T in Spastic Paraplegia 31. 29908077

2018
dbSNP: rs142375870
rs142375870
MAG
0.010 GeneticVariation BEFREE Here, we report the first patient with two compound heterozygous novel MAG mutations (p.A151V and p.S373R) and early developmental delay with a progressive complex phenotype characterized by spastic paraplegia, peripheral sensorimotor neuropathy, intellectual disability, and sensorial dysfunctions with severe optic atrophy and hearing involvement. 31402626

2019
dbSNP: rs144553163
rs144553163
MAG
0.010 GeneticVariation BEFREE Here, we report the first patient with two compound heterozygous novel MAG mutations (p.A151V and p.S373R) and early developmental delay with a progressive complex phenotype characterized by spastic paraplegia, peripheral sensorimotor neuropathy, intellectual disability, and sensorial dysfunctions with severe optic atrophy and hearing involvement. 31402626

2019
dbSNP: rs387906710
rs387906710
UBQLN2
0.010 GeneticVariation BEFREE Here, we report 1 known (c.1489C>T, p.Pro497Ser, P497S) and 3 novel (c.1481C>T, p.Pro494Leu, P494L; c.1498C>T, p.Pro500Ser, P500S; and c.1516C>G, p.Pro506Ala, P506A) missense mutations in the PXX domain of UBQLN2 in familial motor neuron diseases including ALS and spastic paraplegia (SP). 28716533

2017
dbSNP: rs61755320
rs61755320
SPG7
0.010 GeneticVariation BEFREE SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V. 22571692

2013
dbSNP: rs772400670
rs772400670
CYP2U1 ; LOC107986298
0.010 GeneticVariation BEFREE We report three patients in a consanguineous family harboring the novel homozygous c.1168C>T (p.R390*) in SPG56/CYP2U1, and showing a pigmentary degenerative maculopathy associated with progressive spastic paraplegia. 26914923

2016
dbSNP: rs864622269
rs864622269
ATL1
0.010 GeneticVariation BEFREE The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy. 15742100

2005
dbSNP: rs104894490
rs104894490
NIPA1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518697
rs1057518697
KDM5C
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518813
rs1057518813
ERCC5 ; BIVM-ERCC5
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518880
rs1057518880
SPAST
A 0.700 CausalMutation CLINVAR

dbSNP: rs1156566314
rs1156566314
SACS
A 0.700 CausalMutation CLINVAR

dbSNP: rs116171274
rs116171274
CYP7B1
A 0.700 CausalMutation CLINVAR CYP7B1: novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A. 24117163

2014
dbSNP: rs116171274
rs116171274
CYP7B1
A 0.700 CausalMutation CLINVAR Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients. 21623769

2011
dbSNP: rs116171274
rs116171274
CYP7B1
A 0.700 CausalMutation CLINVAR Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia. 23812641

2013
dbSNP: rs116171274
rs116171274
CYP7B1
A 0.700 CausalMutation CLINVAR Comparative modeling of 25-hydroxycholesterol-7α-hydroxylase (CYP7B1): ligand binding and analysis of hereditary spastic paraplegia type 5 CYP7B1 mutations. 21541746

2012
dbSNP: rs116171274
rs116171274
CYP7B1
A 0.700 CausalMutation CLINVAR CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. 19439420

2009
dbSNP: rs1259615333
rs1259615333
SACS
A 0.700 CausalMutation CLINVAR Autosomal recessive spastic ataxia of Charlevoix-Saguenay: compound heterozygotes for nonsense mutations of the SACS gene. 21745802

2011
dbSNP: rs1259615333
rs1259615333
SACS
A 0.700 CausalMutation CLINVAR Novel mutations in the sacsin gene in ataxia patients from Maritime Canada. 19892370

2010
dbSNP: rs1448182827
rs1448182827
GBA2
A 0.700 CausalMutation CLINVAR