KIF1A

kinesin family member 1A
OMIM: 601255, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels
Green KIF1A in Familial dysautonomia


Version 1.17

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Neuropathy, hereditary sensory, type IIC, OMIM:614213
  • NESCAV syndrome, OMIM:614255
Green KIF1A in Ataxia and cerebellar anomalies - narrow panel


Version 5.6
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Spastic paraplegia 30, autosomal dominant, OMIM:610357
    • Spastic paraplegia 30, autosomal recessive, OMIM:610357
    • NESCAV syndrome, OMIM:614255
    Tags
    • watchlist_moi
    Green KIF1A in Pain syndromes

    Level 3: Channelopathies
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.12

    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, OMIM:614213
    Red KIF1A in Paroxysmal central nervous system disorders


    Version 3.10
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    • Wessex and West Midlands GLH
    Phenotypes
    • Neuropathy, hereditary sensory, type IIC, OMIM:614213
    Green KIF1A in Hereditary spastic paraplegia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.311

    review BOTH monoallelic and 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 dominant, OMIM:610357
    • Spastic paraplegia 30, autosomal recessive, OMIM:610357
    • NESCAV syndrome, OMIM:614255
    Green KIF1A in Childhood onset hereditary spastic paraplegia


    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    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 dominant, OMIM:610357
    • Spastic paraplegia 30, autosomal recessive, OMIM:610357
    • NESCAV syndrome, OMIM:614255
    Green KIF1A in Adult onset hereditary spastic paraplegia


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    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 dominant, OMIM:610357
    • Spastic paraplegia 30, autosomal recessive, OMIM:610357
    • NESCAV syndrome, OMIM:614255
    Red KIF1A in Adult onset neurodegenerative disorder


    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    review BOTH monoallelic and 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 dominant, OMIM:610357
    • Spastic paraplegia 30, autosomal recessive, OMIM:610357
    • NESCAV syndrome, OMIM:614255
    Green KIF1A in Fetal anomalies


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, 614213
    • NESCAV SYNDROME, 614255
    Green KIF1A in DDG2P


    Version 4.5
    Latest signed off version: v4.0 (1 May 2024)

    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
    • NESCAV SYNDROME, 614255
    Green KIF1A in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.478

    review BOTH monoallelic and 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, OMIM:614213
    • Spastic paraplegia 30, autosomal dominant, OMIM:610357
    • Spastic paraplegia 30, autosomal recessive, OMIM:610357
    • NESCAV syndrome, OMIM:614255
    Green KIF1A in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.14
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • NESCAV syndrome, OMIM:614255
    Green KIF1A in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.26
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • 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
    • NESCAV syndrome, OMIM:614255
    • Spastic paraplegia 30, autosomal dominant, OMIM:610357
    Green KIF1A in Hereditary neuropathy or pain disorder


    Version 4.11
    Latest signed off version: v4.0 (1 May 2024)

    review BOTH monoallelic and 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
    • Neuropathy, hereditary sensory, type IIC, OMIM:614213
    • Spastic paraplegia 30, autosomal dominant, OMIM:610357
    • Spastic paraplegia 30, autosomal recessive, OMIM:610357
    • NESCAV syndrome, OMIM:614255
    Amber KIF1A in Childhood onset dystonia, chorea or related movement disorder


    Version 4.4
    Latest signed off version: v4.0 (1 May 2024)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • NESCAV syndrome, OMIM:614255
    Green KIF1A in Severe Paediatric Disorders


    Version 1.184

    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