CACNB4

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

14 panels

Panel Reviews Mode of inheritance Details
14 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 2.0

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 1.0

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 2.0

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 2.0

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 1.368

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

Red CACNB4 in Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.0

review Not set
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Expert Review Red
  • Expert

Red CACNB4 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
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 2.0

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 1.0

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 1.0

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 1.0

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