CACNA1A

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

32 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 32 panels
Red CACNA1A in Genomic imprinting Version 0.149	review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature
Green CACNA1A in Infantile nystagmus Level 3: Ocular movement disorders Level 2: Ophthalmological disorders Version 1.10	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 1.3	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 1.46	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 1.80	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 1.147	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 Version 4.63 Latest signed off version: v4.0 (22 Mar 2023) 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 1.17	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN 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 1.332	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 Version 3.5 Latest signed off version: v3.0 (22 Mar 2023)	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 Version 3.10 Latest signed off version: v3.0 (22 Mar 2023)	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 Version 3.5 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 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.5 Latest signed off version: v4.0 (22 Mar 2023) 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 Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	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 Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber PAGE DD-Gene2Phenotype Phenotypes EPILEPTIC ENCEPHALOPATHY
Green CACNA1A in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) 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 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.193 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: 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 - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) 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 Version 4.34 Latest signed off version: v4.0 (22 Mar 2023)	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 Version 3.18 Latest signed off version: v3.12 (31 Jul 2023)	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 Version 3.75 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources PanelApp Expert Review Green London North GLH Phenotypes Episodic ataxia, type 2, OMIM:108500
Green CACNA1A in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Epileptic encephalopathy, early infantile, 42, 617106 Spinocerebellar ataxia 6, 183086 Migraine, familial hemiplegic, 1, 141500 Episodic ataxia, type 2, 108500 Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500
Green CACNA1A_CAG STR in Brain channelopathy Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.80	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 Version 4.63 Latest signed off version: v4.0 (22 Mar 2023) 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 Tags STR watchlist
Green CACNA1A_CAG STR in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.332	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 Version 3.10 Latest signed off version: v3.0 (22 Mar 2023)	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 1.311	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 Version 4.42 Latest signed off version: v4.0 (22 Mar 2023)	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 Version 3.21 Latest signed off version: v3.14 (31 Jul 2023)	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 Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	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 Tags STR watchlist
Green CACNA1A_CAG STR in Hereditary ataxia with onset in adulthood Version 4.34 Latest signed off version: v4.0 (22 Mar 2023)	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 Version 3.18 Latest signed off version: v3.12 (31 Jul 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert list Phenotypes Spinocerebellar ataxia 6, OMIM:183086 Tags STR

CACNA1A

32 panels

Red CACNA1A in Genomic imprinting

Sources

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 - microarray and sequencing

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 in Severe Paediatric Disorders

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