TY  - GEN
AU  - Ben Aim, Laurene
AU  - Maher, Eamonn R
AU  - Cascon Soriano, Alberto
AU  - Barlier, Anne
AU  - Giraud, Sophie
AU  - Ercolino, Tonino
AU  - Pigny, Pascal
AU  - Clifton-Bligh, Roderick J
AU  - Mirebeau-Prunier, Delphine
AU  - Mohamed, Amira
AU  - Favier, Judith
AU  - Gimenez-Roqueplo, Anne-Paule
AU  - Schiavi, Francesca
AU  - Toledo, Rodrigo A
AU  - Dahia, Patricia L
AU  - Robledo Batanero, Mercedes
AU  - Bayley, Jean Pierre
AU  - Burnichon, Nelly
PY  - 2022
UR  - https://hdl.handle.net/20.500.12105/26114
AB  - 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...
AB  - A total of 223 distinct  variants from 737 patients were collected worldwide. Using multiple criteria, each variant was first classified according to a 5-tier grouping based on American College of Medical Genetics and NGSnPPGL standardised...
AB  - This multistep process resulted in 23 benign/likely benign, 149 pathogenic/likely pathogenic variants and 51 variants of unknown significance (VUS). Expert curation reduced by half the number of variants initially classified as VUS. Variant...
AB  - This international initiative by a panel of experts allowed us to establish a consensus classification for 223  variants that should be used as a routine tool by geneticists in charge of PPGL laboratory diagnosis. This accurate classification of ...
LA  - eng
PB  - BMJ PUBLISHING GROUP
KW  - adrenal gland diseases
KW  - databases
KW  - genetic
KW  - genetic testing
KW  - genetic variation
KW  - human genetics
TI  - International initiative for a curated  variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma.
TY  - research article
ER  -