SCN4A

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

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green SCN4A in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital myopathy 22A, classic, MIM# 620351 Congenital myopathy 22B, severe fetal, MIM# 620369 Hyperkalemic periodic paralysis, type 2, MIM# 170500 Hypokalemic periodic paralysis, type 2, MIM# 613345 Myasthenic syndrome, congenital, 16, MIM# 614198 Myotonia congenita, atypical, acetazolamide-responsive , MIM#608390 Paramyotonia congenita , MIM#168300
Green SCN4A in Paroxysmal Dyskinesia Level 2: Neurology and neurodevelopmental disorders Version 0.131 Component of the following Super Panels: Dystonia_Superpanel Neuromuscular Superpanel Tremors_Superpanel	review	Unknown	Sources Royal Children's Hospital Neurology Department Expert Review Green Victorian Clinical Genetics Services
Green SCN4A in Skeletal Muscle Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.1 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hyperkalemic Periodic Paralysis Hypokalemic periodic paralysis, type 2, 613 Thyrotoxic Periodic Paralysis, Susceptibility To, 2 Hypokalemic Periodic Paralysis Episodic weakness Myotonia Potassium-Aggravated Myotonia Hyperkalemic periodic paralysis, type 2, 170500 Myasthenic syndrome, acetazolamide-responsive, 614198
Green SCN4A in Congenital Myasthenia Level 2: Neurology and neurodevelopmental disorders Version 1.10 Component of the following Super Panels: Neuromuscular Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Myasthenic syndrome, congenital, 16, 614198
Green SCN4A in Rhabdomyolysis and Metabolic Myopathy Level 2: Neurology and neurodevelopmental disorders Version 1.6 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Paramyotonia congenita, 168300 Myotonia congenita, atypical, acetazolamide-responsive, 608390 Hypokalemic periodic paralysis, type 2, 613345 Myasthenic syndrome, congenital, 16, 614198 Hyperkalemic periodic paralysis, type 2, 170500
Red SCN4A in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category C gene BabySeq Category A gene Phenotypes Hyperkalemic periodic paralysis, type 2 Hypokalemic periodic paralysis, type 2
Green SCN4A in Fetal anomalies Version 1.255	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Congenital myopathy 22B, severe fetal, MIM# 620369 Myasthenic syndrome, congenital, 16 MIM#614198
Red SCN4A in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene BabySeq Category A gene Expert Review Red BeginNGS Phenotypes Hyperkalemic periodic paralysis, type 2, MIM# 170500 Hypokalemic periodic paralysis, type 2 Paramyotonia congenita , MIM#168300 Myotonia congenita, atypical, acetazolamide-responsive , MIM#608390 Myasthenic syndrome, congenital, 16, MIM# 614198 Hyperkalemic periodic paralysis, type 2 Hypokalemic periodic paralysis, type 2, MIM# 613345
Green SCN4A in Renal Tubulopathies and related disorders Level 2: Renal and urinary tract disorders Version 1.14 Component of the following Super Panels: Kidneyome_SuperPanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myotonia congenita, atypical, acetazolamide-responsive , MIM#608390 Myasthenic syndrome, congenital, 16, MIM# 614198 Hypokalemic periodic paralysis, type 2, MIM# 613345 Paramyotonia congenita , MIM#168300 Hyperkalemic periodic paralysis, type 2, MIM# 170500