1. Genes and Genomic Entities
  2. KIF5C

KIF5C

kinesin family member 5C
OMIM: 604593, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green KIF5C in Malformations of cortical development

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.4
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Cerebral malformation

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • UKGTN
    • Expert Review
    • Other
    Phenotypes
    • Cortical dysplasia, complex, with other brain malformations 2
    Red KIF5C in Autism


    Version 0.36

    		review Not set
    Sources
    • Expert Review Red
    • SFARI
    Red KIF5C in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.3
    Latest signed off version: v6.0 (1 May 2024)

    		review Not set
    Sources
    • Expert Review Red
    Green KIF5C in Fetal anomalies


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Cortical dysplasia, complex, with other brain malformations 2, OMIM:615282
    • Complex cortical dysplasia with other brain malformations 2, MONDO:0014116
    Green KIF5C in DDG2P


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

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 615282
    Green KIF5C in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.10
    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, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cortical dysplasia, complex, with other brain malformations 2, 615282
    Green KIF5C in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.13
    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
    Phenotypes
    • CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2
    • CDCBM2
    Green KIF5C in Severe Paediatric Disorders


    Version 1.184

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cortical dysplasia, complex, with other brain malformations 2, 615282