Spastic paraplegia 15, autosomal recessive
|
0.950 |
CausalMutation
|
disease |
CLINVAR |
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
|
27217339 |
2016 |
Spastic paraplegia 15, autosomal recessive
|
0.950 |
CausalMutation
|
disease |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
Spastic paraplegia 15, autosomal recessive
|
0.950 |
GeneticVariation
|
disease |
CLINVAR |
Spastizin mutation in hereditary spastic paraplegia with thin corpus callosum.
|
27544497 |
2016 |
Spastic paraplegia 15, autosomal recessive
|
0.950 |
GeneticVariation
|
disease |
CLINVAR |
Exome sequencing in undiagnosed inherited and sporadic ataxias.
|
25497598 |
2015 |
Spastic paraplegia 15, autosomal recessive
|
0.950 |
GeneticVariation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
Spastic paraplegia 15, autosomal recessive
|
0.950 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Exome sequencing in undiagnosed inherited and sporadic ataxias.
|
25497598 |
2015 |
Spastic paraplegia 15, autosomal recessive
|
0.950 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Reply: Evaluation of exome sequencing variation in undiagnosed ataxias.
|
25842392 |
2015 |
Spastic paraplegia 15, autosomal recessive
|
0.950 |
CausalMutation
|
disease |
CLINVAR |
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.
|
24833714 |
2014 |
Spastic paraplegia 15, autosomal recessive
|
0.950 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A practical approach to diagnosing adult onset leukodystrophies.
|
24357685 |
2014 |
Spastic paraplegia 15, autosomal recessive
|
0.950 |
GeneticVariation
|
disease |
CLINVAR |
Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort.
|
23733235 |
2013 |
Spastic paraplegia 15, autosomal recessive
|
0.950 |
GeneticVariation
|
disease |
BEFREE |
Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15.
|
24030950 |
2013 |
Spastic paraplegia 15, autosomal recessive
|
0.950 |
Biomarker
|
disease |
MGD |
A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal system.
|
24367272 |
2013 |
Spastic paraplegia 15, autosomal recessive
|
0.950 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum.
|
19805727 |
2009 |
Spastic paraplegia 15, autosomal recessive
|
0.950 |
GermlineCausalMutation
|
disease |
ORPHANET |
SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum.
|
19805727 |
2009 |
Spastic paraplegia 15, autosomal recessive
|
0.950 |
GeneticVariation
|
disease |
CLINVAR |
SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum.
|
19805727 |
2009 |
Spastic paraplegia 15, autosomal recessive
|
0.950 |
GeneticVariation
|
disease |
BEFREE |
Kjellin syndrome is characterized by central retinal degeneration in addition to ARHSP-TCC and the disease is associated with mutations in the SPG15 gene.
|
19194956 |
2009 |
Spastic paraplegia 15, autosomal recessive
|
0.950 |
GeneticVariation
|
disease |
CLINVAR |
Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia.
|
19917823 |
2009 |
Spastic paraplegia 15, autosomal recessive
|
0.950 |
GermlineCausalMutation
|
disease |
ORPHANET |
The SPG15 locus was first reported to account for a rare form of spastic paraplegia variably associated with mental impairment, pigmented maculopathy, dysarthria, cerebellar signs, and distal amyotrophy, sometimes designated as Kjellin syndrome.
|
18394578 |
2008 |
Spastic paraplegia 15, autosomal recessive
|
0.950 |
GeneticVariation
|
disease |
BEFREE |
The SPG15 locus was first reported to account for a rare form of spastic paraplegia variably associated with mental impairment, pigmented maculopathy, dysarthria, cerebellar signs, and distal amyotrophy, sometimes designated as Kjellin syndrome.
|
18394578 |
2008 |
Spastic paraplegia 15, autosomal recessive
|
0.950 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The SPG15 locus was first reported to account for a rare form of spastic paraplegia variably associated with mental impairment, pigmented maculopathy, dysarthria, cerebellar signs, and distal amyotrophy, sometimes designated as Kjellin syndrome.
|
18394578 |
2008 |
Spastic paraplegia 15, autosomal recessive
|
0.950 |
GeneticVariation
|
disease |
CLINVAR |
The SPG15 locus was first reported to account for a rare form of spastic paraplegia variably associated with mental impairment, pigmented maculopathy, dysarthria, cerebellar signs, and distal amyotrophy, sometimes designated as Kjellin syndrome.
|
18394578 |
2008 |
Spastic paraplegia 15, autosomal recessive
|
0.950 |
GeneticVariation
|
disease |
BEFREE |
The locus designated spastic paraplegia 15 (SPG15), located in a 16-Mb interval on chromosome 14q, is associated with a rare autosomal recessive complicated form of HSP known as Kjellin's syndrome.
|
18098276 |
2008 |
Spastic paraplegia 15, autosomal recessive
|
0.950 |
GeneticVariation
|
disease |
BEFREE |
Our study highlights the phenotypic heterogeneity of SPG15 in which mental retardation or cognitive deterioration, but not all other signs of Kjellin syndrome, are associated with HSP and significantly reduces the SPG15 locus.
|
17661097 |
2007 |
Spastic paraplegia 15, autosomal recessive
|
0.950 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Our study highlights the phenotypic heterogeneity of SPG15 in which mental retardation or cognitive deterioration, but not all other signs of Kjellin syndrome, are associated with HSP and significantly reduces the SPG15 locus.
|
17661097 |
2007 |
Spastic paraplegia 15, autosomal recessive
|
0.950 |
Biomarker
|
disease |
CTD_human |
|
|
|