Variant: rs672601370 

    present in Gene: KIF1A
    present in Chromosome: 2
    Position on Chromosome: 240775863
    Alleles of this Variant: G/A

rs672601370 in KIF1A gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 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 21376300 2011 Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.

PMID 26410750 2015 Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis.

PMID 26354034 2015 De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance.

PMID 26125038 2015 De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.

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.

rs672601370 in KIF1A gene and NEUROPATHY, HEREDITARY SENSORY, TYPE IIC PMID 28554332 2017 Genomic diagnosis for children with intellectual disability and/or developmental delay.

PMID 26354034 2015 De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance.

PMID 25265257 2015 De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.

rs672601370 in KIF1A gene and SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder) PMID 25265257 2015 De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.

PMID 26354034 2015 De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance.

PMID 28554332 2017 Genomic diagnosis for children with intellectual disability and/or developmental delay.