Familial hyperparathyroidism or hypocalciuric hypercalcaemia
Gene: RET
Specific activating mutations - targeted analysis most appropriateCreated: 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
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.
Ivone Leong: RET is confirmed to be associa
Mode of inheritance for gene: RET was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RET were changed from Multiple endocrine neoplasia IIB (162300); Multiple endocrine neoplasia IIA (171400) to Multiple endocrine neoplasia IIB (162300); Multiple endocrine neoplasia IIA (171400)/MEN3
Publications for gene: RET were set to
Gene: ret has been classified as Green List (High Evidence).
Mode of pathogenicity for gene: RET was changed from to Other
gene: RET was added gene: RET was added to Familial hyperparathyroidism. Sources: Emory Genetics Laboratory,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RET were set to Multiple endocrine neoplasia IIB (162300); Multiple endocrine neoplasia IIA (171400)