Renal and urinary tract disorders
Gene: RETEnsemblGeneIds (GRCh38): ENSG00000165731
EnsemblGeneIds (GRCh37): ENSG00000165731
OMIM: 164761, Gene2Phenotype
RET is in 30 panels
4 reviews
Helen Stuart (University of Manchester)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bill Newman (Manchester Centre for Genomic Medicine)
Sarah Leigh (Genomics England Curator)
Comment on list classification: No evidence for association with the phenotypeCreated: 5 Aug 2016, 10 a.m.
Comment on phenotypes: G2P lists Renal agenesis, 191830 as an associated phenotype, however, this omim phenotype is linked to ITGA8 and not RETCreated: 5 Aug 2016, 10 a.m.
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Renal agenesis = biallelic, multiplr endocrine neoplasis IIB = monoallelic (sources; G2P and OMIM).Created: 29 Mar 2016, 10:30 a.m.
Comment on list classification: Promoted from amber to green as two reviewers in agreement.Created: 29 Mar 2016, 10:28 a.m.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Multiple endocrine neoplasia IIA, 171400
- Central hypoventilation syndrome, congenital, 209880
- Pheochromocytoma, 171300
- Renal agenesis, 191830
- Multiple endocrine neoplasia IIB, 162300
- Multiple endocrine neoplasia IIA, 171400
- Medullary thyroid carcinoma, 155240
- Multiple endocrine neoplasia IIB, 162300
- Central hypoventilation syndrome, congenital, 209880
- Pheochromocytoma, 171300
- Renal agenesis, 191830
- {Hirschsprung disease, susceptibility to, 1}, 142623
- Medullary thyroid carcinoma, 155240
- {Hirschsprung disease, susceptibility to, 1}, 142623
- Renal Adysplasia
- OMIM
- 164761
- Clinvar variants
- Variants in RET
- Penetrance
- None
- Panels with this gene
-
- Familial pulmonary fibrosis
- Gastrointestinal neuromuscular disorders
- Familial hyperparathyroidism or hypocalciuric hypercalcaemia
- Unexplained kidney failure in young people
- Multiple endocrine tumours
- Unexplained young onset end-stage renal disease - additional genes
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Fetal anomalies
- DDG2P
- Thyroid cancer pertinent cancer susceptibility
- Gastrointestinal epithelial barrier disorders
- 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
- Paediatric pseudo-obstruction syndrome
- Familial Hirschsprung Disease
- Hirschsprung disease
- Childhood solid tumours
- Adult solid tumours for rare disease
- Intellectual disability
- Adult solid tumours cancer susceptibility
- Endocrine neoplasia
- Additional findings health related
- Neuroendocrine cancer pertinent cancer susceptibility
- Multiple endocrine neoplasia type 2
History Filter Activity
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ellen McDonagh: Comment on list classification
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: RET were changed from Multiple endocrine neoplasia IIA, 171400; Central hypoventilation syndrome, congenital, 209880; Pheochromocytoma, 171300; Renal agenesis, 191830; Multiple endocrine neoplasia IIB, 162300; Multiple endocrine neoplasia IIA, 171400Medullary thyroid carcinoma, 155240Multiple endocrine neoplasia IIB, 162300Central hypoventilation syndrome, congenital, 209880Pheochromocytoma, 171300Renal agenesis, 191830{Hirschsprung disease, susceptibility to, 1}, 142623; Medullary thyroid carcinoma, 155240; {Hirschsprung disease, susceptibility to, 1}, 142623; Renal Adysplasia to Multiple endocrine neoplasia IIA, 171400; Central hypoventilation syndrome, congenital, 209880; Pheochromocytoma, 171300; Renal agenesis, 191830; Multiple endocrine neoplasia IIB, 162300; Multiple endocrine neoplasia IIA, 171400; Medullary thyroid carcinoma, 155240; Multiple endocrine neoplasia IIB, 162300; Central hypoventilation syndrome, congenital, 209880; Pheochromocytoma, 171300; Renal agenesis, 191830; {Hirschsprung disease, susceptibility to, 1}, 142623; Medullary thyroid carcinoma, 155240; {Hirschsprung disease, susceptibility to, 1}, 142623; Renal Adysplasia
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Multiple endocrine neoplasia IIA, 171400; Pheochromocytoma, 171300; Central hypoventilation syndrome, congenital, 209880; {Hirschsprung disease, susceptibility to, 1}, 142623; Renal agenesis, 191830; Multiple endocrine neoplasia IIB, 162300; Medullary thyroid carcinoma, 155240; Renal Adysplasia for gene: RET
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: RET was added gene: RET was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: RET was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: RET were set to Multiple endocrine neoplasia IIA, 171400Medullary thyroid carcinoma, 155240Multiple endocrine neoplasia IIB, 162300Central hypoventilation syndrome, congenital, 209880Pheochromocytoma, 171300Renal agenesis, 191830{Hirschsprung disease, susceptibility to, 1}, 142623; Renal Adysplasia