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| References | OMIM | Gene | GeneReviews | HGMD | HGNC |
| GENATLAS PHENOTYPE |
| last update : 15-12-2010 |
| Symbol | PGL2 |
| Location | 11q13.1 |
| HGNC id | 8901 |
| Name | hereditary paraganglioma 2 |
| Other name(s) |
|
| Corresponding gene | SDHAF2 |
| Main clinical features | paragangliomata, chemodectoma, carotid body (glomus) |
| Genetic determination | autosomal dominant |
| Function/system disorder | endocrinology |
| neoplasia | |
| Type | malignancy |
| Mechanism(s) |
| Gene mutation | Chromosome rearrangement | Effect | Comments | |
|---|---|---|---|---|
| nonsense | germline loss-of-function mutations segregating in a family |
| Remark(s) | paraganglioma was previously linked to mutations in genes encoding SDH subunits |