Use of a rare disease registry for establishing phenotypic classification of previously unassigned <i>GLA</i> variants: a consensus classification system by a multispecialty Fabry disease genotype–phenotype workgroup

Abstract

The iterative system implemented by a Fabry disease genotype-phenotype workgroup achieved phenotypic classifications for variants that were previously unclassified. Clinical pathogenicity associated with a particular <i>GLA</i> variant defined in affected males appears to have predictive value and also generally correlates with risk for affected females. The newly established classifications can be of benefit to the clinical care of Fabry patients harbouring these variants.