PanelApp (test)
  1. Genes and Genomic Entities
  2. CACNA1A:Ensemblv90

CACNA1A:Ensemblv90

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

30 panels

Panel Reviews Mode of inheritance Details
30 panels

Green CACNA1A in Alternating Hemiplegia and Hemiplegic Migraine


Level 2: Neurology and neurodevelopmental disorders
Version 0.61

1 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 1.405

3 reviews 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 1.5

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 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 1.3802

    		3 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Developmental and epileptic encephalopathy 42, MIM# 617106

    Green CACNA1A in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.309

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  3 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Developmental and epileptic encephalopathy 42, MIM# 617106
    • Episodic ataxia, type 2 MIM#108500

    Green CACNA1A in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.601

    		0 reviews 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 1.508

    		2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Genetic Health Queensland
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • developmental and epileptic encephalopathy, 42 MONDO:0014917

    Green CACNA1A in Paroxysmal Dyskinesia


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.144

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Tremors_Superpanel

    		•  0 reviews 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 1.62

    Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews 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


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.162

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews 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 0.290

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  1 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 1.2

    		1 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

    		0 reviews 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 1.23

    		3 reviews 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 1.482

    		1 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 Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.141

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Episodic ataxia, type 2, MIM# 108500

    Green CACNA1A in Alternating Hemiplegia and Hemiplegic Migraine


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Migraine, familial hemiplegic, 1, MIM# 141500

    Green CACNA1A in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review
    • Expert Review Green
    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 2.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert list
    • Expert list
    • Expert Review Green
    Phenotypes
    • Episodic ataxia, type 2 MIM#108500
    Tags
    • STR

    Green CACNA1A in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		3 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    • Expert list
    • Expert Review Green
    Phenotypes
    • Developmental and epileptic encephalopathy 42, MIM# 617106
    • Episodic ataxia, type 2 MIM#108500

    Green CACNA1A in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    		0 reviews Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Green CACNA1A in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    • Genetic Health Queensland
    • Expert Review Green
    • Expert Review Green
    Phenotypes
    • developmental and epileptic encephalopathy, 42 MONDO:0014917

    Green CACNA1A in Paroxysmal Dyskinesia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Royal Children's Hospital Neurology Department

    Green CACNA1A in Ataxia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    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 Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Episodic ataxia, type 2 MIM#108500
    • Spinocerebellar ataxia 6 MIM#183086

    Green CACNA1A in Episodic Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert list
    • Expert Review Green
    Phenotypes
    • Episodic ataxia, type 2 MIM#108500
    Tags
    • STR

    Green CACNA1A in Congenital nystagmus


    Level 2: Ophthalmological disorders
    Version 2.0

    		3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • NHS Genomic Medicine Service
    • Genomics England PanelApp
    • Expert Review Green
    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

    Green CACNA1A_SCA6_CAG STR in Ataxia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.62

    Component of the following Super Panels:

  • 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 CACNA1A_SCA6_CAG STR in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.162

    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
    • Spinocerebellar ataxia 6 MIM#183086
    • Episodic ataxia, type 2 MIM#108500

    Green CACNA1A_SCA6_CAG STR in Repeat Disorders


    Version 0.269

    		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