ROR1 was first reported in relation to autosomal recessive nonsyndromic hearing loss (AR NSHL) in 2016 (Diaz-Horta O et al., PMID:27162350) Only one pathogenic missense mutation has been reported and this variant was found to segregate in one family (PMID:27162350) This gene disease association is also supported by a mouse model and expression studies (PMID: 27162350). Ectopic expression of ROR1 was found to prevent cochlear hair cell loss in guinea pigs with noise-induced hearing loss (PMID:34008309). In summary, there is limited evidence to support this gene-disease association. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease association. This gene-disease pair was originally evaluated by the Hearing Loss GCEP on 10/04/2018. It was reevaluated on 6/15/2022. As a result of this reevaluation, the classification did not change.
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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