NADK2 was first reported in relation to autosomal recessive 2,4-dienoyl-CoA reductase (DECR) deficiency in 2014 (Houten et al., PMID 24847004). At least 3 variants (missense, intronic) have been reported in humans. Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least 3 probands in 3 publications (PMIDs 24847004, 27940755, 29388319). This gene-disease association is supported by animal models and expression studies (PMIDs 23212377, 28923496, 35796562). In summary, there is moderate evidence to support this gene-disease relationship. While more evidence is needed to establish this relationship definitively, no convincing contradictory evidence has emerged. This gene-disease pair was originally evaluated by the Fatty Acid Oxidation Disorders GCEP on May 8, 2018. It was reevaluated on May 29, 2025. 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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