|
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
|
0.930 |
GeneticVariation
|
disease |
BEFREE |
Variants in the KIF1A gene can cause autosomal recessive spastic paraplegia 30, autosomal recessive hereditary sensory neuropathy, or autosomal (de novo) dominant mental retardation type 9.
|
31488895 |
2020 |
|
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder.
|
28834584 |
2017 |
|
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Genomic diagnosis for children with intellectual disability and/or developmental delay.
|
28554332 |
2017 |
|
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
|
0.930 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia.
|
28362824 |
2017 |
|
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
|
0.930 |
GeneticVariation
|
disease |
BEFREE |
This report provides the first evidence that mutations outside the motor domain of the gene can cause (recessive) SPG30 and extends the genotype-phenotype association for KIF1A-related diseases.
|
28332297 |
2017 |
|
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement.
|
27034427 |
2016 |
|
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance.
|
26354034 |
2015 |
|
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
|
0.930 |
GermlineCausalMutation
|
disease |
ORPHANET |
The KIF1A-related patients show clinical pictures overlapping the known AD-SPG30 phenotype including pure and complicated forms with few differences.
|
26410750 |
2015 |
|
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
|
0.930 |
Biomarker
|
disease |
BEFREE |
The KIF1A-related patients show clinical pictures overlapping the known AD-SPG30 phenotype including pure and complicated forms with few differences.
|
26410750 |
2015 |
|
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia.
|
25585697 |
2015 |
|
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.
|
25265257 |
2015 |
|
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.
|
26125038 |
2015 |
|
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
The KIF1A-related patients show clinical pictures overlapping the known AD-SPG30 phenotype including pure and complicated forms with few differences.
|
26410750 |
2015 |
|
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
KIF1A mutation in a patient with progressive neurodegeneration.
|
25253658 |
2014 |
|
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
|
0.930 |
GermlineCausalMutation
|
disease |
ORPHANET |
KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.
|
22258533 |
2012 |
|
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.
|
21820098 |
2011 |
|
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.
|
21376300 |
2011 |
|
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.
|
21820098 |
2011 |
|
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis.
|
21487076 |
2011 |
|
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
|
0.930 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
|
0.930 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
|
0.930 |
Biomarker
|
disease |
MGD |
|
|
|