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 1.37

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 1.60

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 2.222
Latest signed off version: v2.23 (8 Oct 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 1.235

    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 1.16
    Latest signed off version: v1.2 (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 2.176
    Latest signed off version: v2.31 (8 Oct 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 2.39
    Latest signed off version: v2.2 (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 1.389

    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 2.398
    Latest signed off version: v2.2 (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} OMIM:607682
    • {Epilepsy, juvenile myoclonic, susceptibility to, 6} OMIM:607682
    • Episodic ataxia, type 5 OMIM:613855
    • Intellectual disability
    Tags
    • for-review

    Amber CACNB4 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1212
    Latest signed off version: v3.2 (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 2.81
    Latest signed off version: v2.13 (6 Oct 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 1.121
    Latest signed off version: v1.14 (15 Oct 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 1.34
    Latest signed off version: v1.2 (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 1.137
    Latest signed off version: v1.58 (6 Oct 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
    Tags
    • for-review

    Green CACNB4 in Severe Paediatric Disorders


    Version 1.81

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