CACNB4

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

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Amber CACNB4 in Alternating Hemiplegia and Hemiplegic Migraine Level 2: Neurology and neurodevelopmental disorders Version 0.57	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Episodic ataxia, type 5, MIM#613855
Amber CACNB4 in Brain Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.3 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Expert Review Amber Victorian Clinical Genetics Services Phenotypes Episodic ataxia, type 5, MIM#613855
Amber CACNB4 in Mendeliome Version 1.1891	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes {Epilepsy, juvenile myoclonic, susceptibility to, 6}, MIM# 607682 {Epilepsy, idiopathic generalized, susceptibility to, 9}, MIM#607682 Episodic ataxia, type 5, MIM#613855
Amber CACNB4 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes {Epilepsy, idiopathic generalized, susceptibility to, 9} 607682 {Epilepsy, juvenile myoclonic, susceptibility to, 6} 607682
Amber CACNB4 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.556	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Episodic ataxia, type 5, MIM#613855
Amber CACNB4 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes intellectual disability psychomotor retardation blindness epilepsy movement disorder cerebellar atrophy
Amber CACNB4 in Paroxysmal Dyskinesia Level 2: Neurology and neurodevelopmental disorders Version 0.131 Component of the following Super Panels: Dystonia_Superpanel Neuromuscular Superpanel Tremors_Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Children's Hospital Neurology Department Victorian Clinical Genetics Services Phenotypes Episodic ataxia, type 5, MIM#613855
Red CACNB4 in Ataxia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.16 Component of the following Super Panels: Ataxia_Superpanel Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Episodic ataxia type 5, 613855
Red CACNB4 in Episodic Ataxia Level 2: Neurology and neurodevelopmental disorders Version 1.1 Component of the following Super Panels: Ataxia_Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Episodic ataxia, type 5 MIM#613855
Red CACNB4 in Familial Generalised Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 0.14	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red GREP Phenotypes {Epilepsy, idiopathic generalized, susceptibility to, 9} OMIM:607682