Adult solid tumours for rare disease
Gene: RET
RET (ret proto-oncogene)
EnsemblGeneIds (GRCh38): ENSG00000165731
EnsemblGeneIds (GRCh37): ENSG00000165731
OMIM: 164761, Gene2Phenotype
RET is in 30 panels
EnsemblGeneIds (GRCh38): ENSG00000165731
EnsemblGeneIds (GRCh37): ENSG00000165731
OMIM: 164761, Gene2Phenotype
RET is in 30 panels
1 review
Clare Turnbull (Queen Mary University London)
Gain of function.Created: 5 Jul 2017, 12:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Multiple Endocrine Neoplasia
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, imprinted status unknown
- Sources
-
- Expert list
- Expert Review Green
- Phenotypes
-
- Multiple Endocrine Neoplasia
- OMIM
- 164761
- Clinvar variants
- Variants in RET
- Penetrance
- None
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Familial pulmonary fibrosis
- Gastrointestinal neuromuscular disorders
- Familial hyperparathyroidism or hypocalciuric hypercalcaemia
- COVID-19 research
- Multiple endocrine tumours
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Fetal anomalies
- Thyroid cancer pertinent cancer susceptibility
- Gastrointestinal epithelial barrier disorders
- Childhood solid tumours cancer susceptibility
- Sudden death in young people
- Inherited phaeochromocytoma and paraganglioma
- Unexplained kidney failure in young people
- Additional findings health related - children
- DDG2P
- Parathyroid Cancer
- Paediatric pseudo-obstruction syndrome
- Familial Hirschsprung Disease
- Hirschsprung disease
- Adult solid tumours for rare disease
- Unexplained young onset end-stage renal disease - additional genes
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Endocrine neoplasia
- Additional findings health related
- Neuroendocrine cancer pertinent cancer susceptibility
- Multiple endocrine neoplasia type 2
- Intellectual disability
- CAKUT
History Filter Activity
5 Mar 2018, Gel status: 4
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)5th March 2018 - promoted to version 1 after expert review and internal clinical review.
19 Dec 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)RET was added to Adult solid tumours for rare disease panel. Sources: Expert Review Green,Expert list
19 Dec 2017, Gel status: 4
Created
Ellen McDonagh (Genomics England Curator)RET was created by Ellen McDonagh