The relationship between ESRRB and autosomal recessive nonsyndromic hearing loss was evaluated using the ClinGen Clinical Validity Framework as of 11/1/2017. Variants in ESRRB were first associated with this disease in humans as early as 2008 (Collin et al.). At least 9 variants (missense, in-frame del, frameshift, and a multiexon deletion) have been reported in humans. Evidence supporting this gene-disease relationship includes case-level and experimental data. Variants in this gene have been reported in at least 9 probands in 4 publications as well as unpublished data (18179891, 21802533, 22567352, 22951369, Partners LMM unpublished data). Variants in this gene segregated with disease in 7 additional family members. This gene-disease association is supported by a mouse model and relevant expression studies (Chen et al. 2007, Collin et al. 2008). In summary, ESRRB is definitively associated with autosomal recessive nonsyndromic hearing loss. This classification was approved by the ClinGen Hearing Loss Working Group on 4/24/2018
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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