Newborns main panel
Gene: RETEnsemblGeneIds (GRCh38): ENSG00000165731
EnsemblGeneIds (GRCh37): ENSG00000165731
OMIM: 164761, Gene2Phenotype
RET is in 30 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
Special Consideration: Internal inclusion list only.
Additional Information: A decision was made to reintroduce this gene-condition into the study, limiting inclusion to a single variant - targeting the RET gain of function variant M918T which is associated with the highest risk of medullary thyroid carcinoma, occurring sporadically or as a de novo event in approximately 90% of cases (PMID: 20301434, 33812987).Created: 31 Dec 2025, 4:47 p.m. | Last Modified: 31 Dec 2025, 4:50 p.m.
Panel Version: 0.499
Ivone Leong (Genomics England Curator)
Comment on list classification: Demoted from Green to Amber due to advice from clinical experts.Created: 15 Apr 2024, 2:49 p.m. | Last Modified: 15 Apr 2024, 2:49 p.m.
Panel Version: 0.454
Mafalda Gomes (Genomics England Curator)
The mechanism of pathogenicity is gain-of-function (GOF).Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
https://search.clinicalgenome.org/kb/genes/HGNC:9967Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- Multiple endocrine neoplasia II
- Tags
- 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
-
- Familial pulmonary fibrosis
- Gastrointestinal neuromuscular disorders
- Familial hyperparathyroidism or hypocalciuric hypercalcaemia
- Unexplained kidney failure in young people
- Multiple endocrine tumours
- Unexplained young onset end-stage renal disease - additional genes
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Fetal anomalies
- DDG2P
- Thyroid cancer pertinent cancer susceptibility
- Gastrointestinal epithelial barrier disorders
- Childhood solid tumours cancer susceptibility
- Sudden death in young people
- Inherited phaeochromocytoma and paraganglioma
- CAKUT
- Additional findings health related - children
- Parathyroid Cancer
- COVID-19 research
- Paediatric pseudo-obstruction syndrome
- Familial Hirschsprung Disease
- Hirschsprung disease
- Childhood solid tumours
- Adult solid tumours for rare disease
- Intellectual disability
- Adult solid tumours cancer susceptibility
- Endocrine neoplasia
- Additional findings health related
- Neuroendocrine cancer pertinent cancer susceptibility
- Multiple endocrine neoplasia type 2
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag special_consideration tag was added to gene: RET.
Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Green was added to RET. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag condition_removed was removed from gene: RET.
Added Tag
Arina Puzriakova (Genomics England Curator)Tag condition_removed tag was added to gene: RET.
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: ret has been classified as Amber List (Moderate Evidence).
Added Tag
Mafalda Gomes (Genomics England Curator)Tag internal_inclusion_list_only tag was added to gene: RET.
Set Phenotypes
Mafalda Gomes (Genomics England Curator)Added phenotypes Multiple endocrine neoplasia II for gene: RET
Added New Source, Set Phenotypes, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Green was added to RET. Added phenotypes Multiple endocrine neoplasia II for gene: RET Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added New Source, Set mode of pathogenicity, Set Phenotypes, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Amber was added to RET. Mode of pathogenicity for gene RET was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Multiple endocrine neoplasia II for gene: RET Rating Changed from No List (delete) to Amber List (moderate evidence)
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Mafalda Gomes (Genomics England Curator)gene: RET was added gene: RET was added to Newborns main panel. Sources: Expert Review Removed 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 II