NEXMIF was first reported in relation to X-linked complex neurodevelopmental disorder in 2013 by Van Maldergem et al. (PMID: 23615299). More than 25 unique variants predicted to cause loss of function of the protein have been described. This gene-disease relationship is also supported by animal models, rescue experiments, and expression studies. In summary, there is definitive evidence supporting the relationship between NEXMIF and X-linked complex neurodevelopmental disorder. This has been repeatedly demonstrated in both the research and clinical diagnostic settings, and has been upheld over time. This classification was approved by the ClinGen Intellectual Disability and Autism Gene Curation Expert Panel on February 5, 2020 (SOP Version 7).
Variants in the NEXMIF gene have been reported in multiple individuals with X-linked complex neurodevelopmental disorder since 2013 (Van Maldergem et al. 2013). More than 25 unique variants predicted to cause a loss of function of the protein have been described. This gene-disease relationship is supported by animal models, rescue experiments, and expression studies. In summary, NEXMIF is definitively associated with X-linked complex neurodevelopmental disorder. This classification was approved by the ClinGen Intellectual Disability and Autism Working Group on 02/05/2020.
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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