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 phenotypes suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panel
Louise Daugherty Phenotypes for gene: GALC were changed from to Krabbe disease, 245200; seizures; CALC deficiency; Galactosylceramide beta-galactosidase deficiency
Louise Daugherty Added comment: Comment on phenotypes: Not added the expert review phenotype Krabbe disease as it related to the previously reviewed gene GALC. Cerebral creatine deficiency syndrome 2, 612736 is the disorder associated to variants of this gene, and is relevant for inclusion on the Genetic Epilepsy Syndromes panel