Gene: SCN4A ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		0.020 GeneticVariation phenotype BEFREE Here, we report an infant with a de novo variant in SCN4A presenting with neonatal onset of severe muscle stiffness with involvement of facial and eyelid muscles, and life-threatening events with respiratory failure due to severe apnoea and thorax rigidity. 31732390 2019
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		0.020 GeneticVariation phenotype BEFREE SCN4A variants have also been found in infants with life-threatening apnoea and laryngospasm. 29605429 2018