Familial hyperparathyroidism or hypocalciuric hypercalcaemia

Gene: RET

Green List (high evidence)

Specific activating mutations - targeted analysis most appropriate

Created: 28 Jan 2019, 4:38 p.m.

Activating mutations in RET are causative of MEN2/MEN3. Hyperparathyroidism is a feature of MEN2A in approximately 30% of cases, it can also be the presenting feature (own data)

Created: 9 Jan 2019, 5:46 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
MEN2A, MEN3/MEN2B

Publications

• PMID: 28740527
• PMID: 25162666

Mode of pathogenicity
Other

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

Submitted on behalf of Treena Cranston (Oxford): minimally cover exons 5,8,10,11,13,14,15 &16.

Created: 31 Jul 2019, 2:12 p.m. | Last Modified: 31 Jul 2019, 2:48 p.m.

Panel Version: 2.0

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.

Comment on mode of pathogenicity: Variants in RET cause gain-of-function effects.

Created: 5 Dec 2018, 2:22 p.m.

RET is confirmed to be associated with Multiple endocrine neoplasia IIA and IIB on OMIM and Gene2Phenotype. RET is also a green gene in the Endocrine neoplasia panel (Version 1.7) and Thyroid cancer pertinent cancer susceptibility (Version 1.0). There are >3 cases of unrelated patients with multiple endocrine neoplasia IIA and IIB who have variants in RET on OMIM.

Created: 5 Dec 2018, 2:21 p.m.