CACNA1A

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

30 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 30 panels
Green CACNA1A in Infantile nystagmus Level 3: Ocular movement disorders Level 2: Ophthalmological disorders Version 1.11	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green UKGTN Phenotypes Episodic ataxia, type 2, OMIM:108500
Red CACNA1A in Familial Meniere Disease Level 3: Other hearing and ear disorders Level 2: Hearing and ear disorders Version 1.4	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Episodic ataxia, type 2, OMIM:108500 Migraine, familial hemiplegic, 1, OMIM:141500 Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500
Green CACNA1A in Skeletal Muscle Channelopathies Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.48	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Phenotypes Episodic ataxia, type 2, OMIM:108500 Migraine, familial hemiplegic, 1, OMIM:141500 Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500
Green CACNA1A in Brain channelopathy Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green UKGTN Eligibility statement prior genetic testing Phenotypes Episodic ataxia, type 2, OMIM:108500 Migraine, familial hemiplegic, 1, OMIM:141500 Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500 Tags treatable
Red CACNA1A in Early onset dystonia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.152	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Phenotypes Episodic ataxia, type 2, OMIM:108500
Green CACNA1A in Ataxia and cerebellar anomalies - narrow panel Level 2: Neurology Version 8.63 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Developmental and epileptic encephalopathy 42, OMIM:617106 developmental and epileptic encephalopathy, 42, MONDO:0014917 Episodic ataxia, type 2, OMIM:108500 Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500
Green CACNA1A in Familial cerebral small vessel disease Level 3: Arteriopathies Level 2: Cardiovascular disorders Version 1.18	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Literature Phenotypes Migraine, familial hemiplegic, 1, OMIM:141500 Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500
Green CACNA1A in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.344	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Eligibility statement prior genetic testing Radboud University Medical Center, Nijmegen UKGTN Phenotypes Episodic ataxia, type 2, OMIM:108500 Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500
Green CACNA1A in Albinism or congenital nystagmus Level 2: Ophthalmology Version 4.2 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Episodic ataxia, type 2, OMIM:108500
Green CACNA1A in Paroxysmal central nervous system disorders Level 2: Neurology Version 4.2 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS London North GLH Wessex and West Midlands GLH Phenotypes Episodic ataxia, type 2, OMIM:108500 Migraine, familial hemiplegic, 1, OMIM:141500 Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500
Red CACNA1A in Skeletal muscle channelopathy Level 2: Neurology Version 3.8 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS London North GLH Phenotypes Episodic ataxia, type 2, OMIM:108500 Migraine, familial hemiplegic, 1, OMIM:141500 Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500
Red CACNA1A in Congenital myaesthenic syndrome Level 2: Neurology Version 5.7 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Wessex and West Midlands GLH Phenotypes Lambert-Eaton myasthenic syndrome, MONDO:0018556
Red CACNA1A in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	Other	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spinocerebellar ataxia 6, OMIM:183086 Tags nucleotide-repeat-expansion currently-ngs-unreportable
Amber CACNA1A in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Amber PAGE DD-Gene2Phenotype Phenotypes Developmental and epileptic encephalopathy 42, OMIM:617106
Green CACNA1A in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green DD-Gene2Phenotype Phenotypes EPILEPTIC ENCEPHALOPATHY
Green CACNA1A in Early onset or syndromic epilepsy Level 2: Neurology Version 8.120 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Expert Phenotypes Developmental and epileptic encephalopathy 42, OMIM:617106 developmental and epileptic encephalopathy, 42, MONDO:0014917 Episodic ataxia, type 2, OMIM:108500 Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500
Green CACNA1A in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review Green Phenotypes Developemental and epileptic encephalopathy 42, OMIM:617106 developmental and epileptic encephalopathy, 42, MONDO:0014917
Green CACNA1A in Hereditary ataxia with onset in adulthood Level 2: Neurology Version 8.23 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Brain channelopathy v1.46 Hereditary ataxia v1.148 Phenotypes Episodic ataxia, type 2, OMIM:108500 Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500 Tags nucleotide-repeat-expansion treatable
Green CACNA1A in Adult onset dystonia, chorea or related movement disorder Level 2: Neurology Version 5.3 Latest signed off version: v5.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS London North GLH Expert Review Green Phenotypes Episodic ataxia, type 2, OMIM:108500 Migraine, familial hemiplegic, 1, OMIM:141500 Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500
Green CACNA1A in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources PanelApp Expert Review Green London North GLH Phenotypes Episodic ataxia, type 2, OMIM:108500
Green CACNA1A_CAG STR in Brain channelopathy Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert Review Phenotypes Spinocerebellar ataxia 6, OMIM:183086 Tags STR
Amber CACNA1A_CAG STR in Ataxia and cerebellar anomalies - narrow panel Level 2: Neurology Version 8.63 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Amber Expert list Phenotypes Spinocerebellar ataxia 6, OMIM:183086 spinocerebellar ataxia type 6, MONDO:0008457 Tags STR Q2_25_ promote_green Q2_25_expert_review
Green CACNA1A_CAG STR in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.344	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert list Phenotypes Spinocerebellar ataxia 6, OMIM:183086 Tags STR
Red CACNA1A_CAG STR in Paroxysmal central nervous system disorders Level 2: Neurology Version 4.2 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Red Expert list Phenotypes Spinocerebellar ataxia 6, OMIM:183086 Tags STR
Green CACNA1A_CAG STR in Hereditary spastic paraplegia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.316	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert Review Phenotypes Spinocerebellar ataxia 6, OMIM:183086 Tags STR
Amber CACNA1A_CAG STR in Childhood onset hereditary spastic paraplegia Level 2: Neurology Version 8.30 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Amber Expert list Phenotypes Spinocerebellar ataxia 6, OMIM:183086 Tags STR
Green CACNA1A_CAG STR in Adult onset hereditary spastic paraplegia Level 2: Neurology Version 6.7 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS South West GLH London North GLH Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 6, OMIM:183086 Tags STR
Amber CACNA1A_CAG STR in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Amber Yorkshire and North East GLH Expert list Phenotypes Spinocerebellar ataxia 6, OMIM:183086 spinocerebellar ataxia type 6, MONDO:0008457 Tags STR Q2_25_ promote_green Q2_25_expert_review
Green CACNA1A_CAG STR in Hereditary ataxia with onset in adulthood Level 2: Neurology Version 8.23 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 6, OMIM:183086 Tags STR
Green CACNA1A_CAG STR in Adult onset dystonia, chorea or related movement disorder Level 2: Neurology Version 5.3 Latest signed off version: v5.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert list Phenotypes Spinocerebellar ataxia 6, OMIM:183086 Tags STR

CACNA1A

30 panels

Green CACNA1A in Infantile nystagmus

Sources

Phenotypes

Red CACNA1A in Familial Meniere Disease

Sources

Phenotypes

Green CACNA1A in Skeletal Muscle Channelopathies

Sources

Phenotypes

Green CACNA1A in Brain channelopathy

Sources

Phenotypes

Tags

Red CACNA1A in Early onset dystonia

Sources

Phenotypes

Green CACNA1A in Ataxia and cerebellar anomalies - narrow panel

Sources

Phenotypes

Green CACNA1A in Familial cerebral small vessel disease

Sources

Phenotypes

Green CACNA1A in Hereditary ataxia

Sources

Phenotypes

Green CACNA1A in Albinism or congenital nystagmus

Sources

Phenotypes

Green CACNA1A in Paroxysmal central nervous system disorders

Sources

Phenotypes

Red CACNA1A in Skeletal muscle channelopathy

Sources

Phenotypes

Red CACNA1A in Congenital myaesthenic syndrome

Sources

Phenotypes

Red CACNA1A in Adult onset neurodegenerative disorder

Sources

Phenotypes

Tags

Amber CACNA1A in Fetal anomalies

Sources

Phenotypes

Green CACNA1A in DDG2P

Sources

Phenotypes

Green CACNA1A in Early onset or syndromic epilepsy

Sources

Phenotypes

Green CACNA1A in Intellectual disability

Sources

Phenotypes

Green CACNA1A in Hereditary ataxia with onset in adulthood

Sources

Phenotypes

Tags

Green CACNA1A in Adult onset dystonia, chorea or related movement disorder

Sources

Phenotypes

Green CACNA1A in Childhood onset dystonia, chorea or related movement disorder

Sources

Phenotypes

Green CACNA1A_CAG STR in Brain channelopathy

Sources

Phenotypes

Tags

Amber CACNA1A_CAG STR in Ataxia and cerebellar anomalies - narrow panel

Sources

Phenotypes

Tags

Green CACNA1A_CAG STR in Hereditary ataxia

Sources

Phenotypes

Tags

Red CACNA1A_CAG STR in Paroxysmal central nervous system disorders

Sources

Phenotypes