CACNA1A

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

34 panels

Panel Reviews Mode of inheritance Details
34 panels

Red CACNA1A in Genomic imprinting


Version 0.94

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 1.3

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • CACNA1A-Related Episodic Ataxia Type 2
  • Episodic Ataxia Type 2 (EA2) Episodic Ataxia, Nystagmus-Associated
  • Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia

Red CACNA1A in Familial Meniere Disease

Level 3: Other hearing and ear disorders
Level 2: Hearing and ear disorders
Version 1.1

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Episodic ataxia type 2
  • migraine familial hemiplegic type 1

Green CACNA1A in Skeletal Muscle Channelopathies

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.30

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Migraine, familial hemiplegic, 1, 141500
  • Episodic ataxia, type 2, 108500
  • Spinocerebellar ataxia 6, 183086
  • Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500
  • Episodic Ataxia, Type 2
  • EA2

Green CACNA1A in Brain channelopathy

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.66

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Eligibility statement prior genetic testing
Phenotypes
  • episodic ataxia type 2 (EA2),108500
  • familial hemiplegic migraine type 1, 141500
Tags
  • treatable

Red CACNA1A in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.93

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia

Green CACNA1A in Ataxia and cerebellar anomalies - narrow panel


Version 2.65
Latest signed off version: v2.64 (16 Dec 2021)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia
    • Spinocerebellar ataxia 6
    • Episodic ataxia, type 2

    Green CACNA1A in Familial cerebral small vessel disease

    Level 3: Arteriopathies
    Level 2: Cardiovascular disorders
    Version 1.10

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Literature
    Phenotypes
    • Episodic ataxia, type 2 108500
    • Migraine, familial hemiplegic, 1 141500 AD
    • Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500
    • Spinocerebellar ataxia 6 183086

    Green CACNA1A in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.232

    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
    • Spinocerebellar ataxia 6
    • Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia
    Tags
    • nucleotide-repeat-expansion

    Green CACNA1A in Albinism or congenital nystagmus


    Version 1.19
    Latest signed off version: v1.18 (4 Aug 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • CACNA1A-Related Episodic Ataxia Type 2
    • Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia
    • Episodic Ataxia Type 2 (EA2) Episodic Ataxia, Nystagmus-Associated

    Green CACNA1A in Paroxysmal central nervous system disorders


    Version 1.15
    Latest signed off version: v1.14 (16 Dec 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • London North GLH
    • Wessex and West Midlands GLH
    Phenotypes
    • Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500
    • EA2
    • Migraine, familial hemiplegic, 1, 141500
    • Episodic Ataxia, Type 2
    • familial hemiplegic migraine type 1, 141500
    • episodic ataxia type 2 (EA2),108500
    • Spinocerebellar ataxia 6, 183086
    • Episodic ataxia, type 2, 108500

    Green CACNA1A in Skeletal muscle channelopathy


    Version 1.24
    Latest signed off version: v1.23 (16 Dec 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • London North GLH
    Phenotypes
    • Episodic ataxia 2 with periodic paralysis
    • Epileptic encephalopathy, early infantile, 42 OMIM:617106
    • Migraine, familial hemiplegic, 1 OMIM:141500
    • Episodic ataxia, type 2 OMIM:108500

    Red CACNA1A in Congenital myaesthenic syndrome

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.36
    Latest signed off version: v2.2 (2 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • episodic ataxia plus myasthenic syndrome
    • hemiplegic migraine plus disturbed NMJ function

    Red CACNA1A in Neurodegenerative disorders - adult onset


    Version 2.57
    Latest signed off version: v2.56 (16 Dec 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • episodic ataxia type 2 (EA2),108500
    • familial hemiplegic migraine type 1, 141500
    • Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia
    • Dystonia
    • Spinocerebellar ataxia 6
    • Episodic ataxia, type 2
    Tags
    • nucleotide-repeat-expansion
    • treatable

    Amber CACNA1A in Fetal anomalies


    Version 1.638
    Latest signed off version: v1.637 (30 Jun 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • EPILEPTIC ENCEPHALOPATHY

    Amber CACNA1A in DDG2P


    Version 2.21
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • EPILEPTIC ENCEPHALOPATHY

    Green CACNA1A in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.312
    Latest signed off version: v2.311 (16 Dec 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Expert
    Phenotypes
    • Epileptic encephalopathy, early infantile, 42, 617106
    • Epilepsy and migraine
    • Absence epilepsy
    • Migraine, familial hemiplegic, 1, 141500
    • Familial hemiplegic migraine 1 (FHM)

    Green CACNA1A in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1002
    Latest signed off version: v3.1001 (16 Dec 2021)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert Review Green
    Phenotypes
    • Epileptic encephalopathy, early infantile, 42 617106
    • Episodic ataxia, type 2 108500
    • Migraine, familial hemiplegic, 1 141500
    • Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500
    • Spinocerebellar ataxia 6 183086

    Green CACNA1A in Hereditary ataxia - adult onset


    Version 2.36
    Latest signed off version: v2.35 (16 Dec 2021)

    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
    • SCA6, 183086
    • familial hemiplegic migraine type 1, 141500
    • Episodic ataxia, type 2
    • Spinocerebellar ataxia 6
    • Familial hemiplegic migraine 1, 141500
    • Episodic ataxia type 2, 108500
    • Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia
    • episodic ataxia type 2 (EA2),108500
    Tags
    • nucleotide-repeat-expansion
    • treatable

    Green CACNA1A in Adult onset movement disorder


    Version 1.82
    Latest signed off version: v1.81 (16 Dec 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • familial hemiplegic migraine type 1, 141500
    • episodic ataxia type 2 (EA2),108500

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


    Version 1.87
    Latest signed off version: v1.86 (16 Dec 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • familial hemiplegic migraine type 1, 141500
    • Dystonia
    • episodic ataxia type 2 (EA2), 108500

    Green CACNA1A in Test MOI validation panel - do not edit


    Version 1.0

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • OMIM test - is biallelic but AD in OMIM

    Green CACNA1A in Severe Paediatric Disorders


    Version 1.66

    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 in NewbornFullV1


    Version 0.1

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green

    Green CACNA1A_CAG STR in Brain channelopathy

    Level 3: Channelopathies
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.66

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 6 183086
    Tags
    • STR

    Amber CACNA1A_CAG STR in Ataxia and cerebellar anomalies - narrow panel


    Version 2.65
    Latest signed off version: v2.64 (16 Dec 2021)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 6 183086
    Tags
    • STR
    • for-review

    Green CACNA1A_CAG STR in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.232

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 6 183086
    Tags
    • STR

    Red CACNA1A_CAG STR in Paroxysmal central nervous system disorders


    Version 1.15
    Latest signed off version: v1.14 (16 Dec 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 6 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 1.235

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 6 183086
    Tags
    • STR

    Amber CACNA1A_CAG STR in Hereditary spastic paraplegia - childhood onset


    Version 2.37
    Latest signed off version: v2.36 (16 Dec 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 6 183086
    Tags
    • STR

    Green CACNA1A_CAG STR in Hereditary spastic paraplegia - adult onset


    Version 1.26
    Latest signed off version: v1.25 (16 Dec 2021)

    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 183086
    Tags
    • STR

    Amber CACNA1A_CAG STR in Neurodegenerative disorders - adult onset


    Version 2.57
    Latest signed off version: v2.56 (16 Dec 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Yorkshire and North East GLH
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 6 183086
    Tags
    • STR
    • for-review

    Green CACNA1A_CAG STR in Hereditary ataxia - adult onset


    Version 2.36
    Latest signed off version: v2.35 (16 Dec 2021)

    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 183086
    Tags
    • STR

    Amber CACNA1A_CAG STR in Adult onset movement disorder


    Version 1.82
    Latest signed off version: v1.81 (16 Dec 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • NHS GMS
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 6 183086
    Tags
    • STR
    • for-review