WDR62 was first reported in relation to autosomal recessive primary microcephaly in 2010 (Bilguvar et al., PMID: 20729831). At least 8 variants (splicing, nonsense, and frameshift) have been reported in humans. Evidence supporting this gene-disease relationship includes case-level data, segregation data, and experimental data. Variants in this gene have been reported in at least 8 probands in 2 publications (PMIDs: 20729831, 20890278). Variants in this gene segregated with disease in 2 additional family members. More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) and experimental evidence (6 pts.) has been reached. The mechanism for disease is loss of function. This gene-disease association is supported by animal models, in vitro functional assays, expression studies, and a rescue study. In summary, WDR62 is definitively associated with autosomal recessive primary microcephaly. This classification was approved by the ClinGen Brain Malformations GCEP on May 26, 2020 (SOP Version 7).
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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