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COVID-19 research

Gene: SCN4A

Red List (low evidence)

SCN4A (sodium voltage-gated channel alpha subunit 4)
EnsemblGeneIds (GRCh38): ENSG00000007314
EnsemblGeneIds (GRCh37): ENSG00000007314
OMIM: 603967, Gene2Phenotype
SCN4A is in 16 panels

1 review

Catherine Snow (Genomics England)

Red List (low evidence)

No further evidence reported since. Matthews et al. (2011) PMID 21220685 reported a family with PMC due to the heterozygous T1313M mutation. Before correct diagnosis, the youngest affected individual presented with neonatal inspiratory stridor and poor feeding. Laryngoscopy showed findings consistent with laryngomalacia. He continued to have stridor for the first 6 months of life, and later motor milestones were mildly delayed. In early childhood, he was noted to have frequent episodic muscle weakness and stiffness associated with cold weather. At age 4 years, he continued to have episodes of inspiratory stridor exacerbated by viral illness, cold weather, and prolonged laughing or crying. His mother, grandfather, and great-uncle reported similar episodes of muscle stiffness and weakness exacerbated by cold and exercise.
Sources: Literature
Created: 22 May 2020, 2:29 p.m. | Last Modified: 22 May 2020, 2:30 p.m.
Panel Version: 0.305

Mode of inheritance


History Filter Activity

22 May 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications

Catherine Snow (Genomics England)

gene: SCN4A was added gene: SCN4A was added to COVID-19 research. Sources: Literature Mode of inheritance for gene: SCN4A was set to Unknown Publications for gene: SCN4A were set to 21220685 Review for gene: SCN4A was set to RED