Endocrine neoplasia
Gene: RETEnsemblGeneIds (GRCh38): ENSG00000165731
EnsemblGeneIds (GRCh37): ENSG00000165731
OMIM: 164761, Gene2Phenotype
RET is in 29 panels
5 reviews
Ivone Leong (Genomics England Curator)
Submitted on behalf of Treena Cranston (Oxford): minimally cover exons 5,8,10,11,13,14,15 &16.Created: 31 Jul 2019, 2:38 p.m. | Last Modified: 31 Jul 2019, 2:48 p.m.
Panel Version: 1.0
Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 11 Mar 2019, 2:04 p.m.
Katie Snape (South London GMC)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Treena Cranston (Oxford)
Sian Ellard (University of Exeter Medical School)
Louise IZATT (GSTT Clinical Genetics Service)
Variants in this gene are already reported as part of UKGTN diagnostic service, but GeL will offer WGS analysis.Created: 16 Oct 2015, 12:53 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- MEN2-like spectrum
- Multiple Endocrine Neoplasia Type 2: RET Gene Deletion/Duplication
- Multiple endocrine neoplasia IIA, 171400
- Endocrine Cancer
- Multiple Endocrine Neoplasia
- OMIM
- 164761
- Clinvar variants
- Variants in RET
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- Familial pulmonary fibrosis
- DDG2P
- Gastrointestinal neuromuscular disorders
- Paediatric pseudo-obstruction syndrome
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Unexplained kidney failure in young people
- Familial hyperparathyroidism or hypocalciuric hypercalcaemia
- Multiple endocrine tumours
- Thyroid cancer pertinent cancer susceptibility
- Gastrointestinal epithelial barrier disorders
- Fetal anomalies
- Unexplained young onset end-stage renal disease - additional genes
- Childhood solid tumours cancer susceptibility
- Sudden death in young people
- Inherited phaeochromocytoma and paraganglioma
- CAKUT
- Additional findings health related - children
- Parathyroid Cancer
- COVID-19 research
- Familial Hirschsprung Disease
- Adult solid tumours for rare disease
- Adult solid tumours cancer susceptibility
- Endocrine neoplasia
- Childhood solid tumours
- Additional findings health related
- Neuroendocrine cancer pertinent cancer susceptibility
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Multiple endocrine neoplasia type 2
History Filter Activity
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: ret has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: RET was added gene: RET was added to Endocrine neoplasms. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RET were set to MEN2-like spectrum; Multiple Endocrine Neoplasia Type 2: RET Gene Deletion/Duplication; Multiple endocrine neoplasia IIA, 171400; Endocrine Cancer; Multiple Endocrine Neoplasia