PanelApp
  1. Genes and Genomic Entities
  2. KIF5C

KIF5C

kinesin family member 5C
OMIM: 604593, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green KIF5C in Lissencephaly and Band Heterotopia


Level 2: Neurology and neurodevelopmental disorders
Version 1.21

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Brain Malformations Flagship
    Phenotypes
    • Cortical dysplasia, complex, with other brain malformations 2, MIM# 615282

    Green KIF5C in Polymicrogyria and Schizencephaly


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.195

    Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Brain Malformations Flagship
    Phenotypes
    • Cortical dysplasia, complex, with other brain malformations 2, MIM# 615282

    Green KIF5C in Arthrogryposis


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.417

    Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cortical dysplasia, complex, with other brain malformations 2, OMIM #615282

    Red KIF5C in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.389

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Cortical dysplasia, complex, with other brain malformations 2 MIM#615282

    Green KIF5C in Mendeliome


    Version 1.2374

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cortical dysplasia, complex, with other brain malformations 2, MIM# 615282

    Green KIF5C in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.119

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Cortical dysplasia, complex, with other brain malformations 2, MIM# 615282

    Green KIF5C in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.540

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cortical dysplasia, complex, with other brain malformations 2, MIM# 615282

    Green KIF5C in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Cortical dysplasia, complex, with other brain malformations 2, MIM# 615282

    Green KIF5C in Fetal anomalies


    Version 1.314

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Cortical dysplasia, complex, with other brain malformations 2, OMIM:615282
    • Complex cortical dysplasia with other brain malformations 2, MONDO:0014116