|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.
|
26626314 |
2016 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Functional evaluation of paraplegin mutations by a yeast complementation assay.
|
20186691 |
2010 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.
|
9635427 |
1998 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the m-AAA subunits AFG3L2 and paraplegin are associated with autosomal dominant spinocerebellar ataxia (SCA28) and autosomal recessive hereditary spastic paraplegia (SPG7), respectively.
|
30252181 |
2018 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
GeneticVariation
|
disease |
BEFREE |
AFG3L2 forms either a homo-oligomeric isoenzyme or a hetero-oligomeric complex with paraplegin, a homologous protein mutated in hereditary spastic paraplegia type 7 (SPG7).
|
22022284 |
2011 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
|
27217339 |
2016 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.
|
16534102 |
2006 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Functional evaluation of paraplegin mutations by a yeast complementation assay.
|
20186691 |
2010 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V.
|
22571692 |
2013 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.
|
17646629 |
2007 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients.
|
21623769 |
2011 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
SPG7 mutations are a common cause of undiagnosed ataxia.
|
25681447 |
2015 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
|
23065789 |
2012 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation.
|
26506339 |
2015 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.
|
22964162 |
2012 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
GeneticVariation
|
disease |
BEFREE |
Spastic paraplegia type 7 (SPG7) is an autosomal recessive form of hereditary spastic paraparesis (ARHSP) caused by mutations in paraplegin, a subunit of an ATP-dependent AAA-protease located within the inner mitochondrial membrane.
|
18563470 |
2008 |
|
Spastic Paraplegia Type 7
|
0.550 |
GeneticVariation
|
disease |
BEFREE |
Spastic paraplegia type 7 (SPG7) is an autosomal recessive form of hereditary spastic paraparesis (ARHSP) caused by mutations in paraplegin, a subunit of an ATP-dependent AAA-protease located within the inner mitochondrial membrane.
|
18563470 |
2008 |
|
Spastic Paraplegia Type 7
|
0.550 |
GeneticVariation
|
disease |
BEFREE |
AFG3L2 forms either a homo-oligomeric isoenzyme or a hetero-oligomeric complex with paraplegin, a homologous protein mutated in hereditary spastic paraplegia type 7 (SPG7).
|
22022284 |
2011 |
|
Spastic Paraplegia Type 7
|
0.550 |
GeneticVariation
|
disease |
BEFREE |
One mutated allele has been previously described as a disease-causing missense mutation for spastic paraplegia type 7 (SPG7) (c.1529C > T, p.Ala510Val).
|
27557734 |
2017 |
|
Spastic Paraplegia
|
0.430 |
GeneticVariation
|
disease |
BEFREE |
SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V.
|
22571692 |
2013 |
|
Spastic Paraplegia
|
0.430 |
GeneticVariation
|
disease |
BEFREE |
The identification of SPG7 as the gene defective in a recessive form of spastic paraplegia has drawn attention to the yeast protein family of ATP-dependent zinc metalloproteases.
|
11549317 |
2001 |
|
Spastic Paraplegia
|
0.430 |
GeneticVariation
|
disease |
BEFREE |
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.
|
9635427 |
1998 |
|
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.
|
28832565 |
2017 |
|
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Characterization of Alu and recombination-associated motifs mediating a large homozygous SPG7 gene rearrangement causing hereditary spastic paraplegia.
|
25398481 |
2015 |
|
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
SPG7 mutations account for less than 5% of hereditary spastic paraplegia (HSP) families compatible with autosomal recessive inheritance.
|
16534102 |
2006 |