International initiative for a curated variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma.

is one of the major genes predisposing to paraganglioma/pheochromocytoma (PPGL). Identifying pathogenic variants in patients with PPGL is essential to the management of patients and relatives due to the increased risk of recurrences, metastases and the emergence of non-PPGL tumours. In this context,...

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Detalles Bibliográficos
Autores: Ben Aim, Laurene, Maher, Eamonn R, Cascon Soriano, Alberto, Barlier, Anne, Giraud, Sophie, Ercolino, Tonino, Pigny, Pascal, Clifton-Bligh, Roderick J, Mirebeau-Prunier, Delphine, Mohamed, Amira, Favier, Judith, Gimenez-Roqueplo, Anne-Paule, Schiavi, Francesca, Toledo, Rodrigo A, Dahia, Patricia L, Robledo Batanero, Mercedes, Bayley, Jean Pierre, Burnichon, Nelly
Tipo de recurso: artículo
Fecha de publicación:2022
País:España
Institución:Instituto de Salud Carlos III (ISCIII)
Repositorio:Repisalud
Idioma:inglés
OAI Identifier:oai:repisalud.isciii.es:20.500.12105/26114
Acceso en línea:https://hdl.handle.net/20.500.12105/26114
Access Level:acceso abierto
Palabra clave:adrenal gland diseases
databases
genetic
genetic testing
genetic variation
human genetics
Descripción
Sumario:is one of the major genes predisposing to paraganglioma/pheochromocytoma (PPGL). Identifying pathogenic variants in patients with PPGL is essential to the management of patients and relatives due to the increased risk of recurrences, metastases and the emergence of non-PPGL tumours. In this context, the 'NGS and PPGL (NGSnPPGL) Study Group' initiated an international effort to collect, annotate and classify variants and to provide an accurate, expert-curated and freely available variant database.

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