rs141659620
×
Entrez Id:
6687
Gene Symbol:
SPG7
SPG7
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
A
0.800
CausalMutation
CLINVAR
The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry.
23269439
2013
rs141659620
×
Entrez Id:
6687
Gene Symbol:
SPG7
SPG7
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
A
0.800
CausalMutation
CLINVAR
Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.
22964162
2012
rs141659620
×
Entrez Id:
6687
Gene Symbol:
SPG7
SPG7
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
0.800
GeneticVariation
UNIPROT
A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.
17646629
2007
rs141659620
×
Entrez Id:
6687
Gene Symbol:
SPG7
SPG7
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
A
0.800
CausalMutation
CLINVAR
Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes.
18799786
2008
rs141659620
×
Entrez Id:
6687
Gene Symbol:
SPG7
SPG7
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
A
0.800
CausalMutation
CLINVAR
Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.
25133958
2014
rs141659620
×
Entrez Id:
6687
Gene Symbol:
SPG7
SPG7
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
0.800
GeneticVariation
UNIPROT
Functional evaluation of paraplegin mutations by a yeast complementation assay.
20186691
2010
rs141659620
×
Entrez Id:
6687
Gene Symbol:
SPG7
SPG7
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
0.800
GeneticVariation
UNIPROT
Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.
16534102
2006
rs141659620
×
Entrez Id:
6687
Gene Symbol:
SPG7
SPG7
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
A
0.800
CausalMutation
CLINVAR
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
23065789
2012
rs141659620
×
Entrez Id:
6687
Gene Symbol:
SPG7
SPG7
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
A
0.800
CausalMutation
CLINVAR
Functional evaluation of paraplegin mutations by a yeast complementation assay.
20186691
2010
rs1567934754
×
Entrez Id:
6687
Gene Symbol:
SPG7
SPG7
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
G
0.700
GeneticVariation
CLINVAR
rs267607085
×
Entrez Id:
6687
Gene Symbol:
SPG7
SPG7
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
0.800
GeneticVariation
UNIPROT
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
27217339
2016
rs267607085
×
Entrez Id:
6687
Gene Symbol:
SPG7
SPG7
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
0.800
GeneticVariation
UNIPROT
Functional evaluation of paraplegin mutations by a yeast complementation assay.
20186691
2010
rs267607085
×
Entrez Id:
6687
Gene Symbol:
SPG7
SPG7
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
0.800
GeneticVariation
UNIPROT
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.
9635427
1998
rs267607085
×
Entrez Id:
6687
Gene Symbol:
SPG7
SPG7
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
0.800
GeneticVariation
UNIPROT
Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.
16534102
2006
rs267607085
×
Entrez Id:
6687
Gene Symbol:
SPG7
SPG7
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
C
0.800
CausalMutation
CLINVAR
rs267607085
×
Entrez Id:
6687
Gene Symbol:
SPG7
SPG7
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
0.800
GeneticVariation
UNIPROT
A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.
17646629
2007
rs368373840
×
Entrez Id:
6687
Gene Symbol:
SPG7
SPG7
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
C
0.700
GeneticVariation
CLINVAR
rs369227537
×
Entrez Id:
6687
Gene Symbol:
SPG7
SPG7
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
T
0.700
CausalMutation
CLINVAR
Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.
22964162
2012
rs369227537
×
Entrez Id:
6687
Gene Symbol:
SPG7
SPG7
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
T
0.700
CausalMutation
CLINVAR
A founder mutation p.H701P identified as a major cause of SPG7 in Norway.
26756429
2016
rs369227537
×
Entrez Id:
6687
Gene Symbol:
SPG7
SPG7
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
T
0.700
CausalMutation
CLINVAR
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.
24727571
2014
rs372981030
×
Entrez Id:
6687
Gene Symbol:
SPG7
SPG7
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
T
0.700
CausalMutation
CLINVAR
rs568556987
×
Entrez Id:
6687
Gene Symbol:
SPG7
SPG7
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
G
0.700
GeneticVariation
CLINVAR
Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.
22964162
2012
rs568556987
×
Entrez Id:
6687
Gene Symbol:
SPG7
SPG7
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
G
0.700
GeneticVariation
CLINVAR
Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients.
21623769
2011
rs61755320
×
Entrez Id:
6687
Gene Symbol:
SPG7
SPG7
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
T
0.800
CausalMutation
CLINVAR
Functional evaluation of paraplegin mutations by a yeast complementation assay.
20186691
2010
rs61755320
×
Entrez Id:
6687
Gene Symbol:
SPG7
SPG7
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
T
0.800
GeneticVariation
CLINVAR
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
23065789
2012