RAB3GAP1 was reported in relation to Warburg Micro Syndrome in 2005 (PMID: 15696165). Evidence supporting this gene-disease relationship is largely case-level data. Variants in this gene have been reported across many publications (PMID: 25326635, 20512159, 23420520, 26421802). More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) was reached. However, functional assays have not been done for this gene and would provide an area of interest for future publication. The mechanism for disease is loss of function. In summary, RAB3GAP1 is definitively associated with Warburg Micro Syndrome.
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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