Multiple Tumours
Gene: RETEnsemblGeneIds (GRCh38): ENSG00000165731
EnsemblGeneIds (GRCh37): ENSG00000165731
OMIM: 164761, Gene2Phenotype
RET is in 30 panels
1 review
Ellen McDonagh (Genomics England Curator)
Information from TruSight panel: Pathogenic Mutations are Activating.Created: 5 Feb 2016, 11:47 a.m.
Mode of pathogenicity
Other - please provide details in the comments
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- TruSight Cancer Panel (Illumina)
- Phenotypes
-
- Multiple Endocrine Neoplasia 2A/2B
- Familial Medullary Thyroid Carcinoma
- Medullary thyroid cancer
- Pheochromocytoma
- Multiple endocrine tumours
- Neuro-endocrine Tumours- PCC and PGL
- Paediatric congenital malformation-dysmorphism-tumour syndromes
- OMIM
- 164761
- Clinvar variants
- Variants in RET
- Penetrance
- Complete
- 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
- 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
- DDG2P
- Thyroid cancer pertinent cancer susceptibility
- Gastrointestinal epithelial barrier disorders
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Sudden death in young people
- Inherited phaeochromocytoma and paraganglioma
- CAKUT
- Unexplained kidney failure in young people
- Additional findings health related - children
- Intellectual disability
- Parathyroid Cancer
- COVID-19 research
- Paediatric pseudo-obstruction syndrome
- Familial Hirschsprung Disease
- Hirschsprung disease
- Childhood solid tumours
- Adult solid tumours for rare disease
- Adult solid tumours cancer susceptibility
- Endocrine neoplasia
- Additional findings health related
- Neuroendocrine cancer pertinent cancer susceptibility
- Multiple endocrine neoplasia type 2
History Filter Activity
Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)Mode of pathogenicity for RET was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)Mode of pathogenicity for RET was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)RET was added to Multiple Tumourspanel. Source: Expert Review Green Model of inheritance for gene RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created
Ellen McDonagh (Genomics England Curator)RET was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)RET was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)