No human disease has been genetically linked to variation in DECR1. A DECR-deficient mouse has been generated, which is indistinguishable from wild type mice under standard conditions but under fasting conditions, the Decr-/- mice exhibited symptoms of inborn errors of mitochondrial fatty acid oxidation (PMID: 19578400). The phenotypes observed in the homozygous Decr1 knockout mice supports the possibility that a clinical phenotype in humans may only occur in individuals experiencing acute metabolic stress. However, the only severe form of DECR deficiency has reported in a patient with a homozygous nonsense variant identified in the NADK2 gene (Houten et al., 2014) . No convincing evidence for a causal role for DECR1 in DECR deficiency has been reported.
This gene-disease pair was originally evaluated by the FAO GCEP on 09/25/2018. It was reevaluated on 01/21/2021. As a result of this reevaluation, the classification did not change as no new information is contributing to the classification.
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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