CACNB4

calcium voltage-gated channel auxiliary subunit beta 4
OMIM: 601949, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Red CACNB4 in Skeletal Muscle Channelopathies

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.21

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682
  • {Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682
  • Episodic ataxia, type 5, 613855
  • Episodic Ataxia

Green CACNB4 in Brain channelopathy

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.55

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • EPISODIC ATAXIA, TYPE 5
  • EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9
Tags
  • treatable

Red CACNB4 in Ataxia and cerebellar anomalies - narrow panel


Version 2.6
Signed off v.2.2 on 2 Mar 2020

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    Phenotypes
    • Episodic ataxia, type 5
    • Episodic Ataxia

    Red CACNB4 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.205

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Episodic ataxia, type 5
    • Episodic Ataxia

    Amber CACNB4 in Paroxysmal central nervous system disorders


    Version 1.3
    Signed off v.1.2 on 27 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • NHS GMS
    • London North GLH
    • Wessex and West Midlands GLH
    Phenotypes
    • Episodic ataxia, type 5, 613855

    Red CACNB4 in Neurodegenerative disorders - adult onset


    Version 2.4
    Signed off v.2.2 on 2 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Episodic ataxia, type 5
    • EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9
    • EPISODIC ATAXIA, TYPE 5
    • Episodic Ataxia
    Tags
    • treatable

    Amber CACNB4 in DDG2P


    Version 2.9
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • JUVENILE MYOCLONIC EPILEPSY 611136
    • CACNB4-RELATED JUVENILE MYOCLONIC EPILEPSY 311100
    • EPISODIC ATAXIA TYPE 5 318989
    • CACNB4-RELATED EPISODIC ATAXIA TYPE 2 279386
    Tags
    • watchlist

    Red CACNB4 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.374

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    Phenotypes
    • Hereditary Neuropathies

    Amber CACNB4 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.143
    Signed off v.2.2 on 13 Feb 2020

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Wessex and West Midlands GLH
    • NHS GMS
    • NIHRBR-RD Consortium SPEED_v3.0_20170404
    • Expert
    Phenotypes
    • {Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682
    • {Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682
    • Episodic ataxia, type 5, 613855
    • Intellectual disability
    Tags
    • for-review

    Amber CACNB4 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.249
    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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • Episodic ataxia, type 5 613855
    • {Epilepsy, idiopathic generalized, susceptibility to, 9} 607682
    • {Epilepsy, juvenile myoclonic, susceptibility to, 6} 607682

    Red CACNB4 in Hereditary ataxia - adult onset


    Version 2.8
    Signed off v.2.7 on 10 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • Brain channelopathy v1.46
    • Hereditary ataxia v1.148
    Phenotypes
    • Episodic ataxia type 5, 613855
    • Episodic ataxia, type 5
    • EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9
    • Episodic Ataxia
    Tags
    • treatable

    Red CACNB4 in Adult onset movement disorder


    Version 1.5
    Signed off v.1.2 on 2 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    Phenotypes
    • EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9
    • EPISODIC ATAXIA, TYPE 5

    Red CACNB4 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.6
    Signed off v.1.2 on 27 Feb 2020

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    • NHS GMS
    • South West GLH
    Phenotypes
    • Hereditary Neuropathies

    Green CACNB4 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.8
    Signed off v.1.2 on 25 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9
    • EPISODIC ATAXIA, TYPE 5

    Green CACNB4 in Severe Paediatric Disorders


    Version 1.10

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Episodic ataxia, type 5, 613855