RET Chromosome 10
Ret proto-oncogene
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What This Gene Does
This gene encodes a transmembrane receptor and member of the tyrosine protein kinase family of proteins. Binding of ligands such as GDNF (glial cell-line derived neurotrophic factor) and other related proteins to the encoded receptor stimulates receptor dimerization and activation of downstream signaling pathways that play a role in cell differentiation, growth, migration and survival. The encoded receptor is important in development of the nervous system, and the development of organs and tissues derived from the neural crest. This proto-oncogene can undergo oncogenic activation through both cytogenetic rearrangement and activating point mutations. Mutations in this gene are associated with Hirschsprung disease and central hypoventilation syndrome and have been identified in patients with renal agenesis. [provided by RefSeq, Sep 2017]
Gene Info
Gene Group
"Cadherin related|Receptor tyrosine kinases"
Locus Type
gene with protein product
Location
10q11.21
Ensembl
ENSG00000165731
Associated Conditions (57)
Hirschsprung disease
susceptibility to
1
Aganglionic megacolon
Multiple endocrine neoplasia
type 2
Hereditary cancer-predisposing syndrome
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2B
Pheochromocytoma
Multiple endocrine neoplasia type 2A
RET-related disorder
Renal hypodysplasia/aplasia 1
6 conditions
Ovarian cancer
Malignant tumor of breast
Congenital anomaly of kidney and urinary tract
Familial hyperparathyroidism or Hypocalciuric hypercalcaemia
Congenital central hypoventilation
Hereditary cancer
+37 more conditions
Key Variants
RS2435357
Benign; risk factor
Hirschsprung disease, susceptibility to, 1
Health Risk
RS1003057639
Conflicting classifications of pathogenicity
Multiple endocrine neoplasia, type 2, Hereditary cancer-predisposing syndrome
Health Risk
RS1008123818
Conflicting classifications of pathogenicity
Multiple endocrine neoplasia, type 2, Hereditary cancer-predisposing syndrome
Health Risk
RS1013952995
Conflicting classifications of pathogenicity
Multiple endocrine neoplasia, type 2, Hereditary cancer-predisposing syndrome
Health Risk
RS1048022444
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2
Health Risk
RS1050242868
Conflicting classifications of pathogenicity
Multiple endocrine neoplasia, type 2, Hereditary cancer-predisposing syndrome
Health Risk
RS1060500754
Conflicting classifications of pathogenicity
Multiple endocrine neoplasia, type 2, Hereditary cancer-predisposing syndrome
Health Risk
RS1060500762
Conflicting classifications of pathogenicity
Multiple endocrine neoplasia, type 2, Hereditary cancer-predisposing syndrome
Health Risk
RS113005278
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2
Health Risk
RS1131691450
Conflicting classifications of pathogenicity
Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia
Health Risk
RS113931414
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2
Health Risk
RS115272158
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2
Health Risk
All Variants (508)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2132708181 | Health Risk | Likely pathogenic | Ovarian cancer, Ovarian cancer |
| RS2132777851 | Health Risk | Likely pathogenic | Hirschsprung disease, susceptibility to, 1 |
| RS2132777891 | Health Risk | Likely pathogenic | Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia |
| RS2132983720 | Health Risk | Likely pathogenic | RET-related disorder, RET-related disorder |
| RS2133006451 | Health Risk | Likely pathogenic | — |
| RS2538402891 | Health Risk | Likely pathogenic | RET-related disorder, RET-related disorder |
| RS2538460738 | Health Risk | Likely pathogenic | Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia |
| RS2538470328 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Familial medullary thyroid carcinoma, Hirschsprung disease |
| RS2538480268 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2538484349 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2538496650 | Health Risk | Likely pathogenic | RET-related disorder, RET-related disorder |
| RS2538550904 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2538569005 | Health Risk | Likely pathogenic | RET-related disorder, RET-related disorder |
| RS2538598662 | Health Risk | Likely pathogenic | Hirschsprung disease, susceptibility to, 1 |
| RS2538616392 | Health Risk | Likely pathogenic | Hirschsprung disease, susceptibility to, 1 |
| RS377767404 | Health Risk | Likely pathogenic | Multiple endocrine neoplasia, type 2, Hereditary cancer-predisposing syndrome |
| RS377767405 | Health Risk | Likely pathogenic | Multiple endocrine neoplasia, type 2, Hereditary cancer-predisposing syndrome |
| RS377767440 | Health Risk | Likely pathogenic | Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia type 2A |
| RS537874538 | Health Risk | Likely pathogenic | Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia type 2A |
| RS751572082 | Health Risk | Likely pathogenic | Aganglionic megacolon, Aganglionic megacolon |
| RS76534745 | Health Risk | Likely pathogenic | Hirschsprung disease, susceptibility to, 1 |
| RS76764689 | Health Risk | Likely pathogenic | Hirschsprung disease, susceptibility to, 1 |
| RS794728687 | Health Risk | Likely pathogenic | — |
| RS1060500759 | Health Risk | Pathogenic | Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia |
| RS1278030644 | Health Risk | Pathogenic | RET-related disorder, RET-related disorder |
| RS1397494237 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2 |
| RS1465353841 | Health Risk | Pathogenic | RET-related disorder, RET-related disorder |
| RS1483605155 | Health Risk | Pathogenic | Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia |
| RS1554818540 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1564489315 | Health Risk | Pathogenic | Aganglionic megacolon, Aganglionic megacolon |
| RS1564494285 | Health Risk | Pathogenic | Sensorineural hearing loss disorder, Hirschsprung disease, susceptibility to |
| RS1564500612 | Health Risk | Pathogenic | Aganglionic megacolon, Multiple endocrine neoplasia, type 2 |
| RS1564501934 | Health Risk | Pathogenic | Aganglionic megacolon, Aganglionic megacolon |
| RS1588862638 | Health Risk | Pathogenic | Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia |
| RS1588866040 | Health Risk | Pathogenic | Hirschsprung disease, susceptibility to, 1 |
| RS1837613320 | Health Risk | Pathogenic | Colorectal cancer, Colorectal cancer |
| RS1837660523 | Health Risk | Pathogenic | — |
| RS1837778621 | Health Risk | Pathogenic | Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia |
| RS1837854100 | Health Risk | Pathogenic | Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia |
| RS1838178970 | Health Risk | Pathogenic | Multiple endocrine neoplasia type 2B, Multiple endocrine neoplasia type 2B |
| RS2132662772 | Health Risk | Pathogenic | Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia |
| RS2132664970 | Health Risk | Pathogenic | Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia |
| RS2132664999 | Health Risk | Pathogenic | Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia |
| RS2132747295 | Health Risk | Pathogenic | Multiple endocrine neoplasia, type 2, RET-related disorder |
| RS2132767341 | Health Risk | Pathogenic | Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia |
| RS2132768560 | Health Risk | Pathogenic | Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia |
| RS2132776227 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2 |
| RS2132902301 | Health Risk | Pathogenic | — |
| RS2491935478 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2492162199 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |