KIF1A

kinesin family member 1A
OMIM: 601255, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green KIF1A in Familial dysautonomia


Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Neuropathy, hereditary sensory, type IIC 614213

Green KIF1A in Pain syndromes

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literaure
  • Review
Phenotypes
  • Neuropathy, hereditary sensory, type IIC, 614213
  • Hereditary Sensory and Autonomic Neuropathy, Type II

Red KIF1A in Paroxysmal central nervous system disorders


Version 1.10
Signed off v.1.2 on 27 Feb 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • London North GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Hereditary Sensory and Autonomic Neuropathy, Type II
  • Neuropathy, hereditary sensory, type IIC, 614213

Green KIF1A in Hereditary spastic paraplegia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.219

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spastic paraplegia 30, autosomal recessive

Green KIF1A in Hereditary spastic paraplegia - childhood onset


Version 2.25
Signed off v.2.18 on 8 Oct 2020

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spastic paraplegia 30, autosomal recessive, 610357
  • Mental retardation, autosomal dominant 9, 614255, AD
  • Neuropathy, hereditary sensory, type IIC, 614213

Green KIF1A in Hereditary spastic paraplegia - adult onset


Version 1.16
Signed off v.1.12 on 15 Oct 2020

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Yorkshire and North East GLH
  • Expert Review Green
  • NHS GMS
  • London North GLH
Phenotypes
  • Spastic paraplegia 30, autosomal recessive, 610357
  • Neuropathy, hereditary sensory, type IIC, 614213, AR
  • Mental retardation, autosomal dominant 9, 614255, AD

Red KIF1A in Neurodegenerative disorders - adult onset


Version 2.38
Signed off v.2.31 on 8 Oct 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • Spastic paraplegia 30, autosomal recessive
Tags
  • watchlist

Green KIF1A in Fetal anomalies


Version 1.179
Signed off v.1.92 on 21 Aug 2020

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
  • NEUROPATHY, HEREDITARY SENSORY, TYPE IIC

Green KIF1A in DDG2P


Version 2.18
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • NEUROPATHY, HEREDITARY SENSORY, TYPE IIC 614213
    • MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 614255

    Green KIF1A in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.383

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Emory Genetics Laboratory
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Neuropathy, hereditary sensory, type IIC, 614213
    • Hereditary Sensory and Autonomic Neuropathy, Type II

    Green KIF1A in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.274
    Signed off v.2.2 on 13 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Mental retardation, autosomal dominant 9 614255

    Green KIF1A in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.740
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Mental Retardation, Dominant
    • Spastic paraplegia 30, autosomal recessive, 610357Neuropathy, hereditary sensory, type IIC, 614213Mental retardation, autosomal dominant 9, 614255
    • MENTAL RETARDATION, AUTOSOMAL DOMINANT 9

    Green KIF1A in Hereditary neuropathy NOT PMP22 copy number


    Version 1.21
    Signed off v.1.2 on 27 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Radboud University Medical Center, Nijmegen
    • Expert Review Green
    • Emory Genetics Laboratory
    • Expert list
    • London North GLH
    • Illumina TruGenome Clinical Sequencing Services
    • NHS GMS
    • NHS GMS
    • London North GLH
    Phenotypes
    • Hereditary Sensory and Autonomic Neuropathy, Type II
    • Neuropathy, hereditary sensory, type IIC, 614213

    No list KIF1A in Childhood onset dystonia or chorea or related movement disorder


    Version 1.74
    Signed off v.1.58 on 6 Oct 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    Phenotypes
    • Dystonia
    • spastic paraplegia
    • intellectual disability

    Green KIF1A in Severe Paediatric Disorders


    Version 1.43

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mental retardation, autosomal dominant 9, 614255
    • Spastic paraplegia 30, autosomal recessive, 610357
    • Neuropathy, hereditary sensory, type IIC, 614213