Facial papules
Gene: RETEnsemblGeneIds (GRCh38): ENSG00000165731
EnsemblGeneIds (GRCh37): ENSG00000165731
OMIM: 164761, Gene2Phenotype
RET is in 23 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Distinctive facies including lip mucosal neuromas resulting in thick vermilion of the upper and lower lip, and mucosal neuromas of the lips and tongue are characteristic of MEN2B. Gain of function variants mainly involving codon 918 (~95%) cause the condition.
Sources: Expert listCreated: 19 Jun 2023, 12:09 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
multiple endocrine neoplasia type 2B MONDO:0008082
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- multiple endocrine neoplasia type 2B MONDO:0008082
- OMIM
- 164761
- Clinvar variants
- Variants in RET
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- 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
Bryony Thompson (Royal Melbourne Hospital)Gene: ret has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ret has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Bryony Thompson (Royal Melbourne Hospital)gene: RET was added gene: RET was added to Facial papules and lesions. Sources: Expert list Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RET were set to 20301434 Phenotypes for gene: RET were set to multiple endocrine neoplasia type 2B MONDO:0008082 Mode of pathogenicity for gene: RET was set to Other Review for gene: RET was set to GREEN gene: RET was marked as current diagnostic