KIF20A was first reported in relation to autosomal recessive congenital heart disease in 2018 (Louw JJ et al.; PMID: 29357359). The autosomal recessive inheritance pattern is supported by the unaffected carrier parents in PMID: 29357359 and by the absence of cardiovascular phenotypes in DECIPHER heterozygous cases. KIF20A encodes a microtubule-associated motor protein that has roles in cell division and intracellular transport (PMID: 10806357). One frameshift variant and one missense variant that have been reported in one family from one publication (PMID: 29357359) are included in this curation. The mechanism of pathogenicity appears to be loss of function. This gene-disease relationship is also supported by a zebrafish model that exhibits a cardiac phenotype which was partially rescued by the injection of wild-type KIF20A (PMID: 29357359). In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing contradictory evidence has emerged. This classification was approved by the ClinGen Hereditary Cardiovascular Disease GCEP on the meeting date 06/27/2024 (SOP Version 10).
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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