This Panel is marked as Internal
Coarse facial features including Coffin-Siris-like disorders
Gene: RET
RET (ret proto-oncogene)
EnsemblGeneIds (GRCh38): ENSG00000165731
EnsemblGeneIds (GRCh37): ENSG00000165731
OMIM: 164761, Gene2Phenotype
RET is in 29 panels
EnsemblGeneIds (GRCh38): ENSG00000165731
EnsemblGeneIds (GRCh37): ENSG00000165731
OMIM: 164761, Gene2Phenotype
RET is in 29 panels
2 reviews
Alice Gardham (Genomics England)
Comment when marking as ready: Unlikely to present with coarse facial featuresCreated: 24 Nov 2016, 9:37 a.m.
Alice Gardham (North West Thames Genetics)
RET associated with several different phenotypes but coarse facial features only associated with MEN2BCreated: 8 Feb 2016, 1:56 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Multiple endocrine neoplasia IIB, 162300
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Multiple endocrine neoplasia IIB
- OMIM
- 164761
- Clinvar variants
- Variants in RET
- Penetrance
- Complete
- Panels with this gene
-
- 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
- Intellectual disability
- 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
24 Nov 2016, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
14 Nov 2016, Gel status: 0
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
8 Feb 2016, Gel status: 0
Created
Alice Gardham (North West Thames Genetics)RET was created by alicegardham
8 Feb 2016, Gel status: 0
Added New Source
Alice Gardham (North West Thames Genetics)RET was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: UKGTN