The KLF10 gene has been associated with hypertrophic cardiomyopathy (HCM) in one cohort study that identified 6 missense variants in 6 probands with HCM (Bos et al. PMID 22234868). No segregation data exists. The functional data reported for these variants is not strongly supportive of pathogenicity (PMID 22234868). One case control study identified no excess variants in HCM patients (Walsh et al. 28082330). The mechanism for disease is not clear but predicted to be loss of function based on experimental studies. This gene-disease association is supported by expression data (Subramaniam et al., 1995 PMID: 8532536; Jiang et al., 2010 PMID: 20201061, Fagerberg et al. PMID 24309898), functional alteration in non patient cells (Li et al., 2015 PMID: 26252173), and model organism studies (Rajamannan et al., 2007 PMID: 16888812). KLF10-/- knockout mice showed left ventricular hypertrophy, fibrosis and myofibrillar disarray. In summary, there is LIMITED evidence to support this gene-disease association. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease association. This classification was originally approved by the ClinGen Hypertrophic Cardiomyopathy Gene Curation Expert Panel on August 1, 2017. This gene-disease relationship was reevaluated on September 14, 2022 by the Hereditary Cardiovascular Disorders GCEP. As a result of this reevaluation, the classification did not change.
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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