Thyroid Cancer
Gene: RETEnsemblGeneIds (GRCh38): ENSG00000165731
EnsemblGeneIds (GRCh37): ENSG00000165731
OMIM: 164761, Gene2Phenotype
RET is in 23 panels
1 review
Chirag Patel (Genetic Health Queensland)
ClinGen definitive. Medullary thyroid cancer reported in condition. GOF variants.
Sources: Expert list, Expert ReviewCreated: 12 Sep 2024, 5:40 a.m. | Last Modified: 12 Sep 2024, 5:42 a.m.
Panel Version: 0.3
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Thyroid cancer, MONDO:0002108; Medullary thyroid gland carcinoma, MONDO:0015277; 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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Expert list
- Phenotypes
-
- Thyroid cancer, MONDO:0002108
- Medullary thyroid gland carcinoma, MONDO:0015277
- 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
- OMIM
- 164761
- Clinvar variants
- Variants in RET
- Penetrance
- None
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
-
- Calcium and Phosphate disorders
- Additional findings_Adult
- Incidentalome_PREGEN_DRAFT
- Gastrointestinal neuromuscular disease
- Parathyroid Tumour
- Hirschsprung disease
- BabyScreen+ newborn screening
- Vasculitis
- Intellectual disability syndromic and non-syndromic
- Transplant Co-Morbidity Superpanel
- Cancer Predisposition_Paediatric
- Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
- Paraganglioma_phaeochromocytoma
- Facial papules
- Incidentalome
- Fetal anomalies
- Additional findings_Paediatric
- Central Hypoventilation
- Cataract
- Renal Tubulopathies and related disorders
- Interstitial Lung Disease
- Hypercalcaemia
- Thyroid Cancer
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ret has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: ret has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity
Chirag Patel (Genetic Health Queensland)gene: RET was added gene: RET was added to Thyroid 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 Thyroid cancer, MONDO:0002108; Medullary thyroid gland carcinoma, MONDO:0015277; 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