Hirschsprung disease
Gene: RETEnsemblGeneIds (GRCh38): ENSG00000165731
EnsemblGeneIds (GRCh37): ENSG00000165731
OMIM: 164761, Gene2Phenotype
RET is in 23 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mono-allelic variants cause MEN2A, Hirschsprung disease is a feature.Created: 1 Nov 2021, 4:38 a.m. | Last Modified: 1 Nov 2021, 4:38 a.m.
Panel Version: 0.18
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Multiple endocrine neoplasia IIA, MIM# 171400
Teresa Zhao (Victorian Clinical Genetics Services)
PMID: 34267336 reported a 15yo boy born from healthy consanguineous parents, diagnosed with Hirschsprung disease that required several surgical interventions due to complications that included severe enterocolitis and abdominal sepsis at birth. A homozygous missense p.Asp571Asn was found in the proband and his similarly affected brother.Created: 1 Nov 2021, 4:34 a.m. | Last Modified: 1 Nov 2021, 4:34 a.m.
Panel Version: 0.18
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hirschsprung disease (HSCR), MIM#142623
Publications
- PMID: 34267336
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Multiple endocrine neoplasia IIA, MIM# 171400
- Hirschsprung disease
- OMIM
- 164761
- Clinvar variants
- Variants in RET
- Penetrance
- None
- Publications
- Panels with this gene
-
- Calcium and Phosphate disorders
- Additional findings_Adult
- Incidentalome_PREGEN_DRAFT
- Gastrointestinal neuromuscular disease
- Parathyroid Tumour
- Hirschsprung disease
- BabyScreen+ newborn screening
- Vasculitis
- Intellectual disability syndromic and non-syndromic
- Transplant Co-Morbidity Superpanel
- Cancer Predisposition_Paediatric
- Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
- Paraganglioma_phaeochromocytoma
- Facial papules
- Incidentalome
- Fetal anomalies
- Additional findings_Paediatric
- Central Hypoventilation
- Cataract
- Renal Tubulopathies and related disorders
- Interstitial Lung Disease
- Hypercalcaemia
- Thyroid Cancer
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ret has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: RET were changed from to Multiple endocrine neoplasia IIA, MIM# 171400; Hirschsprung disease
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: RET were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: RET was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: RET was added gene: RET was added to Hirschsprung disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RET was set to Unknown