Calcium and Phosphate disorders
Gene: RETEnsemblGeneIds (GRCh38): ENSG00000165731
EnsemblGeneIds (GRCh37): ENSG00000165731
OMIM: 164761, Gene2Phenotype
RET is in 23 panels
2 reviews
Chirag Patel (Genetic Health Queensland)
Well established gene-disease association, hyperparathyroidism is a feature.
Sources: Expert listCreated: 28 Nov 2022, 6:04 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Multiple endocrine neoplasia IIA, MIM# 171400; Multiple endocrine neoplasia IIB, MIM# 162300
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association, hyperparathyroidism is a feature.
Sources: Expert ReviewCreated: 31 Mar 2021, 3:31 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Multiple endocrine neoplasia IIA, MIM# 171400; Multiple endocrine neoplasia IIB, MIM# 162300
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Expert Review Green
- Expert Review
- Phenotypes
-
- Multiple endocrine neoplasia IIA, MIM# 171400
- Multiple endocrine neoplasia IIB, MIM# 162300
- OMIM
- 164761
- Clinvar variants
- Variants in RET
- Penetrance
- None
- 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).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: ret has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: RET was added gene: RET was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Expert list Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RET were set to Multiple endocrine neoplasia IIA, MIM# 171400; Multiple endocrine neoplasia IIB, MIM# 162300 Review for gene: RET was set to GREEN