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

Laurene Ben AimEamonn R MaherAlberto CasconAnne BarlierSophie GiraudTonino ErcolinoPascal PignyRoderick J Clifton-BlighDelphine Mirebeau-PrunierAmira MohamedJudith FavierAnne-Paule Gimenez-RoqueploFrancesca SchiaviRodrigo A ToledoPatricia L DahiaMercedes RobledoJean Pierre Bayley Nelly Burnichon

Published in: Journal of medical genetics (2021)

This international initiative by a panel of experts allowed us to establish a consensus classification for 223 SDHB variants that should be used as a routine tool by geneticists in charge of PPGL laboratory diagnosis. This accurate classification of SDHB genetic variants will help to clarify the diagnosis of hereditary PPGL and to improve the clinical care of patients and relatives with PPGL.

Keyphrases

quality improvement
machine learning
end stage renal disease
ejection fraction
healthcare
newly diagnosed
clinical practice
peritoneal dialysis
prognostic factors
palliative care
high resolution
emergency department
patient reported outcomes
mass spectrometry