With the exception of autosomal dominant non-syndromic hearing loss 65 (DFNA65), TBC1D24-related disorders are caused by autosomal recessive pathogenic variants that are thought to cause reduction or loss of function of TBC1D24 protein.
To date, all pathogenic variants are sequence variants or small deletions/duplications that can be detected by sequencing TBC1D24 in a targeted approach, as part of a multigene panel, or by exome/genome sequencing.
To date, no large gene deletions, duplications or rearrangements have been described.