SCN4A

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

17 panels

Panel Reviews Mode of inheritance Details
17 panels

Green SCN4A in Skeletal Muscle Channelopathies

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.45

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 1.130

review Unknown
Sources
  • Literature

Amber SCN4A in Rhabdomyolysis and metabolic muscle disorders

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.78
Latest signed off version: v1.34 (4 Mar 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • SCN4A-related muscle disorders
    Tags
    • Q1_22_rating

    Green SCN4A in Neuromuscular disorders


    Version 5.352
    Latest signed off version: v5.43 (4 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • congenital myopathy
    • Congenital Myasthenic Syndrome, Recessive
    • congenital myasthenic syndromes
    • Myasthenic syndrome, congenital, 16, 614198

    Red SCN4A in Autism


    Version 0.22

    review Not set
    Sources
    • Expert Review Red
    • SFARI

    Red SCN4A in Paroxysmal central nervous system disorders


    Version 1.44
    Latest signed off version: v1.2 (27 Feb 2020)

    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 3.161
    Latest signed off version: v3.2 (13 Feb 2020)

    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 2.89
    Latest signed off version: v2.2 (2 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London South GLH
    • Expert Review Green
    • Expert Review
    Phenotypes
    • congenital myopathy

    Green SCN4A in Skeletal muscle channelopathy


    Version 1.39
    Latest signed off version: v1.2 (2 Mar 2020)

    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 2.40
    Latest signed off version: v2.2 (2 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • 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 dystrophy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.44
    Latest signed off version: v2.4 (2 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • 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 1.900
    Latest signed off version: v1.92 (21 Aug 2020)

    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 Craniosynostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 2.76
    Latest signed off version: v2.2 (13 Feb 2020)

    review Not set
    Sources
    • NHS GMS

    Green SCN4A in DDG2P


    Version 2.76
    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 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 3.1659
    Latest signed off version: v3.2 (13 Feb 2020)

    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 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 1.127

    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 0.10

    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