SCN4A was first reported in relation to autosomal recessive (AR) inheritance in 2015 and associated with congenital myasthenic syndrome (Arnold et al., PMID25707578). Since then it also has been reported to associated with AR foetal hypokinesia or congenital myopathy (PMIDs:26700687, 28003497, 30824560). Evidence supporting the gene-disease relationship includes case-level data, segregation data and experimental data. At least 18 variants including missense, splicing, nosnense and frameshift have been reported in at least 11 probands from 11 families in 6 publications and segregated with diseases in 14 additional family members (PMIDs:25707578, 26700687, 28003497, 30824560,30283817). More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached.The mechanism for disease is homozygous or compound heterozygous loss of function. This gene-disease association is supported by expression studies, altered function and
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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