CACNA1A

calcium voltage-gated channel subunit alpha1 A
OMIM: 601011, Gene2Phenotype

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Green CACNA1A 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 Green Victorian Clinical Genetics Services Phenotypes Migraine, familial hemiplegic, 1, MIM# 141500
Green CACNA1A in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.356	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Developemental and epileptic encephalopathy 42, MIM# 617106 Episodic ataxia, type 2, MIM# 108500 Spinocerebellar ataxia 6, MIM# 183086
Green CACNA1A 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 Green Expert list Expert list Victorian Clinical Genetics Services Phenotypes Episodic ataxia, type 2 MIM#108500 Tags STR
Green CACNA1A in Mendeliome Version 1.1891	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Episodic ataxia, type 2 MIM#108500
Green CACNA1A 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 Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Developmental and epileptic encephalopathy 42, MIM# 617106
Green CACNA1A in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.556	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green CACNA1A in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes developmental and epileptic encephalopathy, 42 MONDO:0014917
Green CACNA1A 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	Unknown	Sources Royal Children's Hospital Neurology Department Expert Review Green Victorian Clinical Genetics Services
Green CACNA1A 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 Green Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia 6 familial hemiplegic migraine type 1, 141500 Familial hemiplegic migraine 1, 141500 SCA6, 183086 episodic ataxia type 2 (EA2),108500 Episodic ataxia type 2, 108500 Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia Episodic ataxia, type 2 Tags STR
Green CACNA1A in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.26 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Episodic ataxia, type 2 MIM#108500 Tags STR
Green CACNA1A in Dystonia - complex Level 2: Neurology and neurodevelopmental disorders Version 0.235 Component of the following Super Panels: Dystonia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions Tremors_Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Episodic ataxia, type 2 MIM#108500 Spinocerebellar ataxia 6 MIM#183086
Green CACNA1A 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 Green Expert list Expert list Phenotypes Episodic ataxia, type 2 MIM#108500 Tags STR
Green CACNA1A in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Episodic ataxia, type 2
Green CACNA1A in Congenital nystagmus Level 2: Ophthalmological disorders Version 1.21	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp NHS Genomic Medicine Service Expert list Phenotypes Developemental and epileptic encephalopathy 42, MIM# 617106 Episodic ataxia, type 2, MIM# 108500 Migraine, familial hemiplegic, 1, MIM# 141500 Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500 Spinocerebellar ataxia 6, MIM# 183086
Red CACNA1A in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Phenotypes Developemental and epileptic encephalopathy 42, MIM# 617106 Episodic ataxia, type 2, MIM# 108500 Migraine, familial hemiplegic, 1, MIM# 141500 Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500 Spinocerebellar ataxia 6, MIM# 183086
Red CACNA1A in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category A gene Phenotypes Episodic ataxia, type 2, MIM# 108500
Green SCA6 STR 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 Green Expert list Phenotypes Spinocerebellar ataxia 6 MIM#183086 Episodic ataxia, type 2 MIM#108500 Tags STR
Green SCA6 STR in Repeat Disorders Version 0.167	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 6 MIM#183086 Episodic ataxia, type 2 MIM#108500 Tags adult-onset