The relationship between MYH14 and autosomal dominant nonsyndromic genetic deafness was described in 2004 by Donaudy et al. (PMID:15015131). At least 14 unique variants (missense, nonsense) have been reported in humans. Evidence supporting this gene-disease relationship includes case-level, segregation, and experimental data. MYH14 is thought to play a beneficial role in the protection of the cochlea after acoustic over-stimulation and that loss of function leads to progressive hearing loss (PMID: 28101381). In summary, there is moderate evidence to support this gene-disease relationship. While more evidence is needed to establish this relationship definitively, no convincing contradictory evidence has emerged. This classification was approved by the ClinGen Hearing Loss Working Group on 8/31/2020. Of note, MYH14 has also been associated with a neuropathy phenotype that includes hearing loss, but that evidence was not included in this curation.
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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