MFF was first reported in relation to autosomal recessive encephalopathy due to peroxisomal and mitochondrial fission defect in 2012 (Shamseldin et al., PMID: 22499341). At least 5 variants (nonsense and frameshift) have been reported in humans. Evidence supporting this gene-disease relationship includes case-level data and experimental data. Summary of case-level and experimental data: 9.5 points. Variants in this gene have been reported in at least 5 probands in 4 publications (PMIDs: 22499341, 30581454, 26783368, 32181496). This gene disease relationship is supported by in vitro functional assays (PMID: 18353969, 22499341, 28108524, 32224193). In summary, there is moderate evidence to support this gene-disease relationship. Although more evidence is needed to establish this relationship definitively, no convincing contradictory evidence has emerged. This gene-disease pair was originally evaluated by the Peroxisomal Disorders GCEP on April 15, 2022. It was reevaluated on May 2, 2024. 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).
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.