PEX2 was first reported in relation to autosomal recessive peroxisomal biogenesis disorder in 1992 (Shimozawa et al., PMID: 1546315). 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: 16.5 points. Variants (nonsense, missense, and frameshift) in this gene have been reported in at least 7 probands in 4 publications (PMIDS: 14630978, 21392394, 9452066, 1546315). The mechanism for disease is expected to be homozygoues loss of function. This gene-disease association is supported by expression studies, animal models, and in vitro functional assays. In summary, PEX2 is definitively associated with autosomal recessive peroxisomal biogenesis disorder. 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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