SLC44A4 was first reported in relation to autosomal dominant nonsyndromic hearing loss in 2017 (Ma et al., PMID: 28013291). One variant (c.466A>G p.M156V) has been reported in one proband in one publication (PMID: 28013291) and is included in this curation. The variant was shown to segregate in the presented kindred with a LOD score of 2.1. The mechanism of pathogenicity is reported to be LOF. This gene-disease relationship is also supported by an animal model and rescue of the phenotype as well as expression level data (PMID: 28013291). 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 Hearing Loss GCEP on 04/24/2018. It was reevaluated on 11/16/2022. As a result of this reevaluation, the classification did not change from limited (SOP Version 9).
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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