Gastrointestinal epithelial barrier disorders
Gene: RETEnsemblGeneIds (GRCh38): ENSG00000165731
EnsemblGeneIds (GRCh37): ENSG00000165731
OMIM: 164761, Gene2Phenotype
RET is in 30 panels
1 review
Olivia Niblock (Genomics England Curator)
Comment on list classification: The evidence suggests that variants in this gene can provide a susceptability to Hirschsprung Disease, but no direct link.Created: 26 Jul 2018, 1:09 p.m.
Details
- Sources
-
- Expert Review Amber
- Emory Genetics Laboratory
- UKGTN
- Phenotypes
-
- Inflammatory Bowel Disease (Very Early Onset)
- Early Onset Inflammatory Bowel Disease
- OMIM
- 164761
- Clinvar variants
- Variants in RET
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- DDG2P
- Familial pulmonary fibrosis
- Gastrointestinal neuromuscular disorders
- Familial hyperparathyroidism or hypocalciuric hypercalcaemia
- Multiple endocrine tumours
- Unexplained young onset end-stage renal disease - additional genes
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Thyroid cancer pertinent cancer susceptibility
- Gastrointestinal epithelial barrier disorders
- Childhood solid tumours cancer susceptibility
- Sudden death in young people
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Inherited phaeochromocytoma and paraganglioma
- Unexplained kidney failure in young people
- Additional findings health related - children
- Parathyroid Cancer
- COVID-19 research
- Paediatric pseudo-obstruction syndrome
- Familial Hirschsprung Disease
- Hirschsprung disease
- Adult solid tumours for rare disease
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Endocrine neoplasia
- Additional findings health related
- Neuroendocrine cancer pertinent cancer susceptibility
- Multiple endocrine neoplasia type 2
- Fetal anomalies
- CAKUT
History Filter Activity
Entity classified by Genomics England curator
Olivia Niblock (Genomics England Curator)Gene: ret has been classified as Amber List (Moderate Evidence).
Panel promoted to version 1.0
Olivia Niblock (Genomics England Curator)Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018
Added New Source, Set penetrance
Olivia Niblock (Genomics England Curator)Emory Genetics Laboratory was added to RET. Panel: Gastrointestinal epithelial barrier disorders Phenotypes for gene RET were set to Inflammatory Bowel Disease (Very Early Onset), Early Onset Inflammatory Bowel Disease
Added New Source
Olivia Niblock (Genomics England Curator)RET was added to Gastrointestinal epithelial barrier disorders panel. Sources: UKGTN
Created
Olivia Niblock (Genomics England Curator)RET was created by Olivia Niblock