Parathyroid Tumour
Gene: RET
ClinGen definitive. GOF variants.
Sources: Expert list, Expert ReviewCreated: 12 Sep 2024, 5:21 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Tumor of parathyroid gland, MONDO:0021360; Multiple endocrine neoplasia type 2A, MONDO:0008234; Multiple endocrine neoplasia type 2B, MONDO:0008082; Multiple endocrine neoplasia, type 2A, MIM#171400; Multiple endocrine neoplasia, type 2B, MIM#162300; Pheochromocytoma, MIM#171300; Medullary thyroid carcinoma, MIM#155240; Pheochromocytoma, susceptibility to, MIM#171300
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Gene: ret has been classified as Green List (High Evidence).
Gene: ret has been classified as Green List (High Evidence).
gene: RET was added gene: RET was added to Parathyroid Neoplasm. Sources: Expert list,Expert Review Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RET were set to Tumor of parathyroid gland, MONDO:0021360; Multiple endocrine neoplasia type 2A, MONDO:0008234; Multiple endocrine neoplasia type 2B, MONDO:0008082; Multiple endocrine neoplasia, type 2A, MIM#171400; Multiple endocrine neoplasia, type 2B, MIM#162300; Pheochromocytoma, MIM#171300; Medullary thyroid carcinoma, MIM#155240; Pheochromocytoma, susceptibility to, MIM#171300 Mode of pathogenicity for gene: RET was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: RET was set to GREEN