|
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 |
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 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 |
CausalMutation
|
disease |
CLINVAR |
A founder mutation p.H701P identified as a major cause of SPG7 in Norway.
|
26756429 |
2016 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia.
|
14985266 |
2004 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.
|
26626314 |
2016 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort.
|
27790088 |
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 |
CausalMutation
|
disease |
CLINVAR |
Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.
|
25133958 |
2014 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.
|
23812641 |
2013 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
SPG7 mutations are a common cause of undiagnosed ataxia.
|
25681447 |
2015 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Early-onset optic neuropathy as initial clinical presentation in SPG7.
|
25034272 |
2014 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Functional evaluation of paraplegin mutations by a yeast complementation assay.
|
20186691 |
2010 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort.
|
23733235 |
2013 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Compound heterozygote mutations in SPG7 in a family with adult-onset primary lateral sclerosis.
|
27123479 |
2016 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes.
|
18799786 |
2008 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
CausalMutation
|
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 |
CausalMutation
|
disease |
CLINVAR |
Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.
|
27165006 |
2016 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
CausalMutation
|
disease |
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 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia.
|
18200586 |
2008 |
|
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 |
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 |
CausalMutation
|
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 |
CausalMutation
|
disease |
CLINVAR |
Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England.
|
11222789 |
2001 |