Arina Puzriakova Added comment: Comment on list classification: Overall there is evidence to support inclusion of this gene with a green rating on this panel. Given the phenotype features severe muscular hypotonia and weakness with relevant age of onset, it is plausible that patients may be tested under the congenital myopathy clinical indication.
Arina Puzriakova Phenotypes for gene: SPTBN4 were changed from ?Myopathy, congenital, with neuropathy and deafness, 617519 to Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, OMIM:617519