Additional findings health related
Gene: RETEnsemblGeneIds (GRCh38): ENSG00000165731
EnsemblGeneIds (GRCh37): ENSG00000165731
OMIM: 164761, Gene2Phenotype
RET is in 30 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment on phenotypes: Clinically relevant transcript NM_020975.4Created: 21 May 2018, 3:59 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Other
- Expert Review Green
- Phenotypes
-
- Other cancer predisposition
- Myltiple endocrine Neoplasia Type 2
- Adult and child
- Transcripts
-
- ENST00000355710.8
- NM_020975.4
- OMIM
- 164761
- Clinvar variants
- Variants in RET
- Penetrance
- None
- 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
-
- 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
- Intellectual disability
- 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
- CAKUT
History Filter Activity
Set transcript
Catherine Snow (Genomics England)Transcript for gene RET was changed from ENST00000355710.8 to ENST00000355710.8; NM_020975.4
Set transcript
Ellen McDonagh (Genomics England Curator)Transcript for gene RET was changed from ENST00000355710.7 to ENST00000355710.8
Set Phenotypes, Set transcript
Ellen McDonagh (Genomics England Curator)Phenotypes for gene: RET were changed from ENST00000355710.7; Other cancer predisposition; Myltiple endocrine Neoplasia Type 2; Adult and child to Other cancer predisposition; Myltiple endocrine Neoplasia Type 2; Adult and child Transcript for gene RET was changed from None to ENST00000355710.7
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene: RET were changed from NM_020975.4; Other cancer predisposition; Myltiple endocrine Neoplasia Type 2; Adult and child to ENST00000355710.7; Other cancer predisposition; Myltiple endocrine Neoplasia Type 2; Adult and child
Removed Source, Removed Source, Added New Source, Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)Source Additional Findings was removed from RET. Source ACMG was removed from RET. Source Other was added to RET. Mode of pathogenicity for gene RET was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for RET were set to NM_020975.4; Other cancer predisposition; Myltiple endocrine Neoplasia Type 2; Adult and child
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for RET were set to Other cancer predisposition; Myltiple endocrine Neoplasia Type 2; Adult and child
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)RET was added to Genomics England Secondary Findings panel. Sources: ACMG,Additional Findings
Created
Ellen McDonagh (Genomics England Curator)RET was created by Ellen McDonagh