Familial hyperparathyroidism or hypocalciuric hypercalcaemia

Gene: MEN1

Green List (high evidence)

pathogenic variants in the MEN1 gene are associated with 1)MEN1, whereby hyperparathyroidism can be the presenting feature or 2) Familial Isolated hyperparathyroidism (there are families in the literature who exclusively have FIHP, although some of these families have later had individuals who develop MEN1).

Created: 9 Jan 2019, 5:01 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
MEN1; familial isolated hyperparathyroidism

Publications

• PMID: 25162666
• PMID: 28740527

Variants in this GENE are reported as part of current diagnostic practice

As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.

Created: 29 Jan 2019, 11:52 a.m.

MEN1 is confirmed to be associated with multiple endocrine neoplasia 1 in OMIM and Gene2Phenotype. MEN1 is also a green gene on the Parathyroid cancer panel (Version 1.3) and Endocrine neoplasia panel (Version 1.7). There are >3 cases of unrelated patients with multiple endocrine neoplasia 1 who have variants in MEN1 on OMIM.

Created: 5 Dec 2018, 2:17 p.m.