Groopman et al 2019 - Genes with diagnostic variantsGene: GLA
From Groopman et al 2019 Table S7. Gene symbol: GLA; Inheritance: X-linked (Heterozygous in females, Hemizygous in males); Clinical diagnosis: Tubulointerstitial disease; Other; Genetic diagnosis: Fabry disease; OMIM phenotype MIM no.: 301500; Number of cases: 3
Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.
Panel Version: 0.4
Source Expert Review Green was added to GLA. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: GLA was added gene: GLA was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: GLA were set to Tubulointerstitial disease; Other; Fabry disease; MIM 301500