PEX12 was first reported in relation to autosomal recessive peroxisomal biogenesis disorder in 1997 (Okumoto et al., PMID:9354782). 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 16 probands in 5 publications (PMIDS: 9090384, 9792857, 14571262, 9354782, 9632816). More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. The mechanism for disease is expected to be loss of function. This gene-disease association is supported by expression studies, cell culture models, and in vitro functional assays. In summary, PEX12 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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