数据库名称：ClinGen
数据库简述：Clinical Genome Resource
所属国家/地区：Canada
数据库主要信息：Peroxisomal disorders are heterogeneous in nature, with phenotypic overlap that is indistinguishable without molecular testing. Newborn screening and gene sequencing for a panel of genes implicated in peroxisomal diseases are critical tools for the early and accurate detection of these disorders. It is therefore essential to evaluate the clinical validity of the genes included in sequencing panels for peroxisomal disorders. The Peroxisomal Gene Curation Expert Panel (GCEP) assessed genes frequently included on clinical peroxisomal testing panels using the Clinical Genome Resource (ClinGen) gene-disease validity curation framework and classified gene-disease relationships as Definitive, Strong, Moderate, Limited, Disputed, Refuted, or No Known Disease Relationship. Subsequent to gene curation, the GCEP made recommendations to update the disease nomenclature and ontology in the Monarch Disease Ontology (Mondo) database.
建立年份：2023
联系信息：Contact information
University/Institution:
McGill University
Address:
Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada. Electronic
City:
Province/State:
Country/Region:
Canada
Contact name (PI/Team):
ClinGen database
Contact email (PI/Helpdesk):
clingen@clinicalgenome.org
