SCN4A

sodium voltage-gated channel alpha subunit 4
OMIM: 603967, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels
Green SCN4A in Skeletal Muscle Channelopathies

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.46

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hyperkalemic periodic paralysis, type 2, 170500
  • Myasthenic syndrome, acetazolamide-responsive, 614198
  • Hypokalemic periodic paralysis, type 2, 613
  • Potassium-Aggravated Myotonia
  • Hyperkalemic Periodic Paralysis
  • Hypokalemic Periodic Paralysis
  • Thyrotoxic Periodic Paralysis, Susceptibility To, 2
  • Myotonia
  • Episodic weakness
Red SCN4A in COVID-19 research


Level 2: Viral research
Version 1.142

review Unknown
Sources
  • Literature
Green SCN4A in Rhabdomyolysis and metabolic muscle disorders

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.4
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • SCN4A-related muscle disorders
    Red SCN4A in Autism


    Version 0.36

    review Not set
    Sources
    • Expert Review Red
    • SFARI
    Red SCN4A 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 Red
    • NHS GMS
    • London North GLH
    • Wessex and West Midlands GLH
    Phenotypes
    • Thyrotoxic Periodic Paralysis, Susceptibility To, 2
    • Hypokalemic periodic paralysis, type 2, 613
    • Potassium-Aggravated Myotonia
    • Hyperkalemic periodic paralysis, type 2, 170500
    • Myasthenic syndrome, acetazolamide-responsive, 614198
    • Hyperkalemic Periodic Paralysis
    • Episodic weakness
    • Myotonia
    • Hypokalemic Periodic Paralysis
    Green SCN4A in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.7
    Latest signed off version: v6.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Myasthenic syndrome, congenital, 16, OMIM:614198, Congenital myasthenic syndrome 16, MONDO:0013620
    Green SCN4A in Congenital myopathy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.38
    Latest signed off version: v4.37 (1 May 2024)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London South GLH
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Congenital myopathy, MONDO:0019952
    Green SCN4A in Skeletal muscle channelopathy


    Version 3.5
    Latest signed off version: v3.0 (22 Mar 2023)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • London North GLH
    Phenotypes
    • Hypokalemic periodic paralysis, type 2 OMIM:613345
    • Hyperkalemic periodic paralysis, type 2 OMIM:170500
    • Paramyotonia congenita OMIM:168300
    • Congenital myopathy MONDO:0019952.
    Green SCN4A in Congenital myaesthenic syndrome

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.6
    Latest signed off version: v4.5 (1 May 2024)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Myasthenic syndrome, congenital, 16, OMIM:614198
    Red SCN4A in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.33
    Latest signed off version: v4.32 (1 May 2024)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    • Yorkshire and North East GLH
    • Expert Review
    Phenotypes
    • Hyperkalemic periodic paralysis, type 2, 170500
    • Hyperkalemic periodic paralysis
    Green SCN4A in Fetal anomalies


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • PARAMYOTONIA CONGENITA OF VON EULENBURG
    • HYPERKALEMIC PERIODIC PARALYSIS TYPE 1
    • HYPOKALEMIC PERIODIC PARALYSIS
    Red SCN4A in Rare syndromic craniosynostosis or isolated multisuture synostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 5.1
    Latest signed off version: v5.0 (1 May 2024)

    review Not set
    Sources
    • NHS GMS
    Green SCN4A in DDG2P


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • HYPOKALEMIC PERIODIC PARALYSIS 613345
    • PARAMYOTONIA CONGENITA OF VON EULENBURG 168300
    • HYPERKALEMIC PERIODIC PARALYSIS TYPE 1 170500
    Red SCN4A in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.21
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Hyperkalemic periodic paralysis, type 2, 170500
    • Paramyotonia
    • congenita, 168300
    • Myotonia congenita, atypical, acetazolamide-responsive, 608390
    • Myasthenic syndrome, acetazolamide-responsive, 614198
    • Hypokalemic periodic paralysis, type 2, 613345
    Green SCN4A in Severe Paediatric Disorders


    Version 1.184

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hyperkalemic periodic paralysis, type 2, 170500
    • Myasthenic syndrome, congenital, 16, 614198
    • Myotonia congenita, atypical, acetazolamide-responsive, 608390
    • Hypokalemic periodic paralysis, type 2, 613345
    • Paramyotonia congenita, 168300
    Green SCN4A in Acute rhabdomyolysis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.18
    Latest signed off version: v1.7 (31 May 2023)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Exercise induced cramps, muscle fatigue, myopathy
    • Hyperkalemic periodic paralysis, type 2, OMIM:170500
    • Hypokalemic periodic paralysis, type 2, OMIM:613345
    • Paramyotonia congenita, OMIM:168300
    • Myotonia congenita, atypical, acetazolamide-responsive, OMIM:608390
    • Myasthenic syndrome, congenital, 16, OMIM:614198