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Hirschsprung disease
Gene: RET
RET (ret proto-oncogene)
EnsemblGeneIds (GRCh38): ENSG00000165731
EnsemblGeneIds (GRCh37): ENSG00000165731
OMIM: 164761, Gene2Phenotype
RET is in 30 panels
EnsemblGeneIds (GRCh38): ENSG00000165731
EnsemblGeneIds (GRCh37): ENSG00000165731
OMIM: 164761, Gene2Phenotype
RET is in 30 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotype in OMIM (MIM #142623) and the OMIM record was last accessed on 20 December 2025.Created: 20 Dec 2025, 6:15 p.m. | Last Modified: 20 Dec 2025, 6:15 p.m.
Panel Version: 1.2
RET has been added to the panel for R177 Hirschsprung disease with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 1:36 p.m. | Last Modified: 30 Jun 2023, 1:36 p.m.
Panel Version: 0.1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- {Hirschsprung disease, protection against}, OMIM:142623
- {Hirschsprung disease, susceptibility to, 1}, OMIM:14262
- Hirschsprung disease, susceptibility to, 1, MONDO:0007723
- OMIM
- 164761
- Clinvar variants
- Variants in RET
- Penetrance
- None
- 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
20 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: RET were changed from to {Hirschsprung disease, protection against}, OMIM:142623; {Hirschsprung disease, susceptibility to, 1}, OMIM:14262; Hirschsprung disease, susceptibility to, 1, MONDO:0007723
29 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: RET was added gene: RET was added to Hirschsprung disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown