Gastrointestinal epithelial barrier disorders
Gene: RETEnsemblGeneIds (GRCh38): ENSG00000165731
EnsemblGeneIds (GRCh37): ENSG00000165731
OMIM: 164761, Gene2Phenotype
RET is in 29 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
-
- Adult solid tumours cancer susceptibility
- Paediatric pseudo-obstruction syndrome
- Familial pulmonary fibrosis
- Gastrointestinal neuromuscular disorders
- DDG2P
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Unexplained kidney failure in young people
- Multiple endocrine tumours
- Thyroid cancer pertinent cancer susceptibility
- Gastrointestinal epithelial barrier disorders
- Familial hyperparathyroidism or hypocalciuric hypercalcaemia
- Unexplained young onset end-stage renal disease - additional genes
- Childhood solid tumours cancer susceptibility
- Sudden death in young people
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Inherited phaeochromocytoma and paraganglioma
- Intellectual disability
- CAKUT
- Additional findings health related - children
- Endocrine neoplasia
- Parathyroid Cancer
- COVID-19 research
- Familial Hirschsprung Disease
- Adult solid tumours for rare disease
- Fetal anomalies
- Childhood solid tumours
- Multiple endocrine neoplasia type 2
- Additional findings health related
- Neuroendocrine cancer pertinent cancer susceptibility
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