SNAI2 was first reported in relation to autosomal recessive Waardenburg syndrome in 2002 (Sanchez-Martin et al., PMID: 12444107). A homozygous whole gene deletion has been reported in 2 probands in one study (PMIDs:12444107). This gene-disease relationship is also supported by a mouse model demonstrating abnormalities in the vestibular organ and cochlea of Slug-null mice, and a luciferase assay suggesting that MITF interacts with the SNAI2 promoter (PMID: 12444107). In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship. This gene-disease pair was originally evaluated by the ClinGen Hearing Loss GCEP on 12/19/2017 as per SOP v5. It was reevaluated on 10/31/2024 using SOP v11. As a result of this reevaluation, this record underwent an update in scoring to be consistent with SOP v11. New case level evidence has been reviewed but was not scorable, and the classification did not change (PMID: 30936914).
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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