ELMOD3 was FIRST reported in relation to autosomal dominant nonsyndromic hearing loss in 2018 (Li et al., PMID: 29713870). At least one missense variant has been reported in humans. Evidence supporting this gene-disease relationship includes case-level data, segregation data, and expression data. Of note, this gene has also been implicated in autosomal recessive nonsyndromic hearing loss. This has been assessed separately. Summary of Case Level Data: 0.5 POINTS. Variants in this gene have been reported in at least 1 proband in 1 publication and segregated with disease in 4 additional family members (Li et al., PMID: 29713870). This gene-disease association is supported by expression studies. Of note, the heterozygous ELMOD3 null mouse does not display a phenotype and was not scored. (Li et al 2019 PMID:31628468). 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 classification was approved by the ClinGen Hearing Loss Gene Curation Expert Panel on the meeting date 11.17.21 (SOP Version 8).
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).
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.