MYO1F was first associated with autosomal dominant nonsyndromic hearing loss in 2009 (Zadro et al., PMID: 19027848). At least 6 unique missense variants have been reported in 7 individuals in 2 publications (PMIDs: 19027848, 22938506), however none of the reported variants has convincing evidence of pathogenicity i.e. all were missense variants that either had a high MAF in gnomAD v4., no family history of hearing loss and/or segregations, or the variant was present in unaffected family members. This gene-disease relationship is supported by expression in the murine inner ear (PMID:12486594). In summary, the relationship between MYO1F and autosomal dominant nonsyndromic hearing loss has been disputed. More evidence is needed to either support or refute the role MYO1F plays in this disease. This gene-disease pair was originally evaluated by the ClinGen Hearing Loss GCEP on 06/06/2017 as per SOP v5. It was reevaluated on 10/31/2024 using SOP v11. As a result of this reevaluation, this record underwent a review to be consistent with SOP v11. There has been no new evidence published since the last 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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