CRKL was first reported in relation to congenital heart disease in 2012 (Tomita Mitchell et al., PMID:22318994). Seven probands with CNVs (4 duplications, 3 gross deletions) at the 22q11.2 location have been reported in 3 publications (PMID: 22318994, 28121514, 36205932). No evidence for a causal role for CRKL in congenital heart disease has been reported. Although this gene-disease association is supported by an animal model, no reports have directly implicated the gene in humans. This classification was approved by the ClinGen Congenital Heart Disease GCEP on the meeting date 10/17/2023 (SOP Version 9)
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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