SCN4A

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

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 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 1.141	review	Unknown	Sources Literature
Green SCN4A in Rhabdomyolysis and metabolic muscle disorders Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 3.48 Latest signed off version: v3.0 (22 Mar 2023) 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
Green SCN4A in Other rare neuromuscular disorders Version 19.202 Latest signed off version: v19.1 (22 Mar 2023)	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 0.36	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 5.22 Latest signed off version: v5.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory 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 4.37 Latest signed off version: v4.0 (22 Mar 2023) 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 4.5 Latest signed off version: v4.0 (22 Mar 2023) 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 4.32 Latest signed off version: v4.0 (22 Mar 2023) 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 3.157 Latest signed off version: v3.0 (22 Mar 2023)	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 4.180 Latest signed off version: v4.0 (22 Mar 2023)	review	Not set	Sources NHS GMS
Green SCN4A 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 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 - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.536 Latest signed off version: v5.0 (22 Mar 2023) 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