USH1G was associated with autosomal recessive nonsyndromic hearing loss in 2013 (Shearer et al.) At least seven probands with nine unique variants have been reported in seven publications (30029624, 25255398, 26969326, 26226137, 23804846, 25528277, 26561413). Probands identified were not scored due to insufficient phenotypic information to rule out Retinitis pigmentosa or probands presented with normal vision, but were below the age of onset for RP. This gene-disease association is supported by experimental expression evidence in 3 studies, however, studies were previously scored in the USH1G-autosomal recessive Usher syndrome curation thus were not scored in this curation. Expression data does support that the USH1G (sans) protein is expressed in relevant tissue. In summary, there is convincing evidence disputing the relationship between USH1G and autosomal recessive nonsyndromic hearing loss. More evidence is needed to either support or refute the role USH1G plays in this disease. This classification was approved by the ClinGen Hearing Loss gene curation expert panel on 5/27/19.
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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