SCN4A

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

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green SCN4A in Mendeliome Version 2.0	1 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 1.0	0 reviews	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 2.0	1 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 2.0	1 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 2.0	1 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 1.0	0 reviews	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 2.0	2 reviews	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 Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	0 reviews	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 2.0	1 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