Tracy Lester reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29439846; Phenotypes: GM1-gangliosidosis, type I 230500 , GM1-gangliosidosis, type II 230600, GM1-gangliosidosis, type III 230650, Mucopolysaccharidosis type IVB (Morquio) 253010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease association
Louise Daugherty Added comment: Comment on phenotypes: Added phenotype suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panel