OCRL was first reported in related to X-linked Lowe oculocerebrorenal syndrome in 1992 (Attree et al., 1992, PMID: 1321346). Since then over 200 variants have been reported in patients affected by this disease. More than half of these variants are proven or predicted null alleles and some missense variants have also been confirmed to cause deficient enzyme activity by functional studies, indicating a loss-of-function disease mechanism. This gene-disease relationship is further supported by expression studies, animal models, and rescue experiments. In summary, OCRL is definitively associated with X-linked Lowe oculocerebrorenal 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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