Condition: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
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.