The hyperparathyroidism gene panel is designed to identify germline variants associated with hereditary forms of primary hyperparathyroidism and related parathyroid disorders. The panel includes genes associated with multiple endocrine neoplasia, familial hypocalciuric hypercalcaemia, hyperparathyroidism-jaw tumour syndrome, and familial isolated hyperparathyroidism. Identification of a pathogenic variant may confirm a genetic diagnosis, guide clinical management, and inform assessment and genetic testing of family members.
The gene panel consists for the 8 "green" genes listed in the PanelApp UK Familial hyperparathyroidism or Hypocalciuric hypercalcaemia panel (Version 3.11) (MEN1, RET, CDKN1B, CASR, GNA11, AP2S1, CDC73, GCM2)
MUTA