The BCS1L gene has been associated with autosomal recessive Bjornstad syndrome using the ClinGen Clinical Validity Framework as of 12/13/16. This association was made using case-level data only. At least 12 missense, splice site, and frameshift variants have been reported in humans. BCS1L was first associated with this disease in humans as early as 2007 (Hinson et al.). Association is seen in at least 9 probands in 5 publications (17314340, 24172246, 25895478, 28322498, 28105683). Variants in this gene segregated with disease in 13 additional family members. This gene-disease association is supported by experimental evidence performed by Hinston et al. 2007. In summary, BCS1L is definitively associated with autosomal recessive Bjornstad syndrome. This classification was approved by the ClinGen Hearing Loss Working Group on 7/9/18.
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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