PHYH was first reported in relation to autosomal recessive phytanoyl-CoA hydroxylase deficiency (adult Refsum disease included) in 1997 (Jansen et al., PMID: 9326940). Numerous variants have been reported in humans per ClinVar. Evidence supporting this gene-disease relationship includes case-level data and experimental data. Summary of case-level and experimental data: 14.5 points. Variants in this gene have been reported in at least 16 probands in 4 publications (PMIDS: 25604618, 31240149, 17905308,10767344, 9326940, 22156782, 9326939, 28681609). This gene-disease association is supported by animal models and in vitro functional assays. In summary, PHYH is definitively associated with autosomal recessive phytanoyl-CoA hydroxylase deficiency. This has been repeatedly demonstrated in both the research and clinical diagnostic settings and has been upheld over time.
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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