Gene: KIF1A
Alternate names for this Gene: ATSV|C2orf20|HSN2C|MRD9|NESCAVS|SPG30|UNC104
Gene Summary: The protein encoded by this gene is a member of the kinesin family and functions as an anterograde motor protein that transports membranous organelles along axonal microtubules. Mutations at this locus have been associated with spastic paraplegia-30 and hereditary sensory neuropathy IIC. Alternatively spliced transcript variants encoding distinct isoforms have been described.
Gene is located in Chromosome: 2
Location in Chromosome : 2q37.3
Description of this Gene: kinesin family member 1A
Type of Gene: protein-coding
rs797045164 in
KIF1A gene and
Athetosis
PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
rs387906799 in
KIF1A gene and
Atrophy of corpus callosum
PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
rs734586 in
KIF1A gene and
Body Height
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs672601368 in
KIF1A gene and
Cerebellar atrophy
PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
rs387906799 in
KIF1A gene and
Cerebellar atrophy, progressive
PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
rs797045164 in
KIF1A gene and
Cortical visual impairment
PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
rs672601368 in
KIF1A gene and
Generalized hypotonia
PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
rs672601368 in
KIF1A gene and
Hyperreflexia
PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
rs672601368 in
KIF1A gene and
Hypoplasia of corpus callosum
PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
rs387906799 in
KIF1A gene and
Hypsarrhythmia
PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
rs387906799 in
KIF1A gene and
Infantile Spasm
PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
rs387906799 in
KIF1A gene and
Infantile muscular hypotonia
PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
rs1064793161 in
KIF1A gene and
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
PMID 27034427 2016 Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement.
PMID 26354034 2015 De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance.
PMID 26410750 2015 Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis.
PMID 21820098 2011 KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.
PMID 25265257 2015 De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.
PMID 21376300 2011 Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.
PMID 26125038 2015 De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.
PMID 25253658 2014 KIF1A mutation in a patient with progressive neurodegeneration.
PMID 28554332 2017 Genomic diagnosis for children with intellectual disability and/or developmental delay.
PMID 25585697 2015 Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia.
PMID 28834584 2017 A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder.
rs797045164 in
KIF1A gene and
Metatarsus Varus
PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
rs1553637932 in
KIF1A gene and
Movement Disorders
PMID 28835676 2017 Homozygous p.Ser267Phe in SLC10A1 is associated with a new type of hypercholanemia and implications for personalized medicine.
PMID 28362824 2017 Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia.
PMID 26354034 2015 De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance.
PMID 28708278 2018 Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.
PMID 25585697 2015 Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia.
PMID 22258533 2012 KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.
PMID 26410750 2015 Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis.
PMID 28332297 2017 Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene.
PMID 26125038 2015 De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.
PMID 27034427 2016 Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement.
PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
PMID 21820098 2011 KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.
PMID 25265257 2015 De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.
PMID 21487076 2011 Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis.
PMID 21376300 2011 Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.
rs672601370 in
KIF1A gene and
Multiple congenital anomalies
PMID 28708278 2018 Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.
PMID 28362824 2017 Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia.
PMID 28332297 2017 Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene.
PMID 22258533 2012 KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.
PMID 21376300 2011 Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.
PMID 27034427 2016 Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement.
PMID 26354034 2015 De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance.
PMID 21487076 2011 Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis.
PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
PMID 25265257 2015 De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.
PMID 26410750 2015 Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis.
PMID 21820098 2011 KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.
PMID 25585697 2015 Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia.
PMID 28835676 2017 Homozygous p.Ser267Phe in SLC10A1 is associated with a new type of hypercholanemia and implications for personalized medicine.
PMID 26125038 2015 De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.
rs672601370 in
KIF1A gene and
Muscle hypotonia
PMID 21376300 2011 Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.
PMID 21487076 2011 Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis.
PMID 25265257 2015 De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.
PMID 26125038 2015 De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.
PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
PMID 22258533 2012 KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.
PMID 28332297 2017 Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene.
PMID 21820098 2011 KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.
PMID 28708278 2018 Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.
PMID 26354034 2015 De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance.
PMID 25585697 2015 Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia.
PMID 28835676 2017 Homozygous p.Ser267Phe in SLC10A1 is associated with a new type of hypercholanemia and implications for personalized medicine.
PMID 27034427 2016 Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement.
PMID 28362824 2017 Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia.
PMID 26410750 2015 Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis.
rs1064793161 in
KIF1A gene and
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
PMID 26354034 2015 De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance.
PMID 27034427 2016 Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement.
PMID 26410750 2015 Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis.
PMID 21820098 2011 KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.
PMID 25265257 2015 De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.
PMID 26125038 2015 De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.
PMID 25253658 2014 KIF1A mutation in a patient with progressive neurodegeneration.
PMID 21376300 2011 Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.
PMID 28554332 2017 Genomic diagnosis for children with intellectual disability and/or developmental delay.
PMID 25585697 2015 Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia.
PMID 28834584 2017 A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder.
rs672601368 in
KIF1A gene and
Optic Neuropathy
PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
rs387906799 in
KIF1A gene and
PEHO syndrome
PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
rs672601368 in
KIF1A gene and
Paraparesis, Spastic
PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
rs672601368 in
KIF1A gene and
Peripheral Neuropathy
PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
rs387906799 in
KIF1A gene and
Profound intellectual disabilities
PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
rs1064793161 in
KIF1A gene and
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
PMID 26354034 2015 De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance.
PMID 27034427 2016 Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement.
PMID 26410750 2015 Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis.
PMID 21820098 2011 KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.
PMID 21487076 2011 Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis.
PMID 26125038 2015 De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.
PMID 21376300 2011 Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.
PMID 25253658 2014 KIF1A mutation in a patient with progressive neurodegeneration.
PMID 25265257 2015 De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.
PMID 28554332 2017 Genomic diagnosis for children with intellectual disability and/or developmental delay.
PMID 25585697 2015 Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia.
PMID 28834584 2017 A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder.
rs797045164 in
KIF1A gene and
Scoliosis, unspecified
PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
rs672601368 in
KIF1A gene and
Seizures
PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
rs797045050 in
KIF1A gene and
Spastic Paraplegia
PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.
rs548204329 in
KIF1A gene and
Spastic Paraplegia, Hereditary
PMID 28832565 2017 Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.
rs13027102 in
KIF1A gene and
mathematical ability
PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.