SCN4A

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

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green SCN4A in Skeletal Muscle Channelopathies Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.48	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 1.146	review	Unknown	Sources Literature
Green SCN4A in Rhabdomyolysis and metabolic muscle disorders Level 2: Neurology Version 5.14 Latest signed off version: v5.4 (30 Apr 2025) 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 Paroxysmal central nervous system disorders Level 2: Neurology Version 4.2 Latest signed off version: v4.0 (30 Apr 2025)	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 2: Neurology Version 9.24 Latest signed off version: v9.0 (30 Apr 2025)	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 2: Neurology Version 6.45 Latest signed off version: v6.0 (30 Apr 2025) 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 Level 2: Neurology Version 3.8 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 2: Neurology Version 5.7 Latest signed off version: v5.0 (30 Apr 2025) 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 2: Neurology Version 5.29 Latest signed off version: v5.0 (30 Apr 2025) 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 Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes Classic congenital myopathy-22A, OMIM:620351 congenital myopathy 22A, classic,MONDO:0957247:Severe fetal congenital myopathy-22B, OMIM:620369 congenital myopathy 22B, severe fetal, MONDO:0957265 Tags Q2_25_ MOI
Red SCN4A in Rare syndromic craniosynostosis or isolated multisuture synostosis Level 2: Musculoskeletal Version 6.3 Latest signed off version: v6.0 (30 Apr 2025)	review	Not set	Sources NHS GMS
Green SCN4A in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) 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 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) 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 Acute rhabdomyolysis Level 2: Neurology Version 2.7 Latest signed off version: v2.0 (30 Apr 2025)	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