EPS8L2 has been reported in relation to autosomal recessive nonsyndromic hearing loss. At least 2 unique loss of function variants have been reported in humans (26282398, 28281779). Variants in this gene segregated with disease in additional family members. This gene-disease association is supported by a knock-out mouse model and relevant expression studies. In summary, there is moderate evidence to support this gene-disease association. While more evidence is needed to establish this association definitively, no convincing contradictory evidence has emerged. This classification was approved by the ClinGen Hearing Loss Working Group on 2/5/2020.
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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