TBC1D24 was first reported in relation to autosomal dominant nonsyndromic hearing loss in 2014 by two groups (Zhang et al and Azaiez et al., PMIDs: 24729547, 24729539). At least 8 missense variants that have been reported in 12 humans in 6 publications are included in this curation (PMID: 24729547, 24729539, 33281559, 33986365, 36597107, 38413761). Variants in this gene have segregated with disease in 64 additional family members (PMIDs: 24729547, 24729539, 33281559, 33986365, 38413761). This gene-disease relationship is also supported by expression studies (PMIDs: 224729547, 24729539, 32987832). Other than expression in mouse cochlear hair cells, there is no experimental evidence for a dominant disease. In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship. This gene-disease pair was originally evaluated by the ClinGen Hearing Loss GCEP on 3/27/2018 as per SOP v6. It was reevaluated on 5/3/2024 using SOP v10. As a result of this reevaluation, the classification did not change. New case-level and functional evidence has been reviewed or added, but the classification did not change (PMIDs: 36597107, 34440452, 32860223, 38413761, 32987832).
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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