| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Multiple endocrine tumours v1.14 | SDHB | Arina Puzriakova Phenotypes for gene: SDHB were changed from Endocrine Cancer; familial paraganglioma to Paragangliomas 4, OMIM:115310; Pheochromocytoma, OMIM:171300; Paraganglioma and gastric stromal sarcoma, OMIM:606864 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple endocrine tumours v1.13 | VHL | Ivone Leong Phenotypes for gene: VHL were changed from Endocrine Cancer; Pheochromocytoma, OMIM:171300; von Hippel-Lindau syndrome, OMIM:193300 to Endocrine Cancer; Pheochromocytoma, OMIM:171300; von Hippel-Lindau syndrome, OMIM:193300; Paragangliomas, MONDO:0000448 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple endocrine tumours v1.12 | VHL |
Ivone Leong Added comment: Comment on phenotypes: Previously: Endocrine Cancer; Paragangliomas 1, with or without deafness, 168000; Pheochromocytoma, 171300; Carcinoid tumors, intestinal, 114900; Merkel cell carcinoma, somatic; Paraganglioma and gastric stromal sarcoma, 606864; Cowden syndrome 3, 615106 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple endocrine tumours v1.12 | VHL | Ivone Leong Phenotypes for gene: VHL were changed from Endocrine Cancer; Paragangliomas 1, with or without deafness, 168000; Pheochromocytoma, 171300; Carcinoid tumors, intestinal, 114900; Merkel cell carcinoma, somatic; Paraganglioma and gastric stromal sarcoma, 606864; Cowden syndrome 3, 615106 to Endocrine Cancer; Pheochromocytoma, OMIM:171300; von Hippel-Lindau syndrome, OMIM:193300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple endocrine tumours v1.11 | CDKN1B | Arina Puzriakova Phenotypes for gene: CDKN1B were changed from Multiple endocrine neoplasia, type IV, 610755; Multiple Endocrine Neoplasia; Endocrine Cancer to Multiple endocrine neoplasia, type IV, OMIM:610755 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple endocrine tumours v1.10 | MAX | Arina Puzriakova Phenotypes for gene: MAX were changed from Endocrine Cancer to {Pheochromocytoma, susceptibility to}, OMIM:171300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple endocrine tumours v1.9 |
Ivone Leong Panel name changed from Endocrine neoplasia to Multiple endocrine tumours List of related panels changed from Multiple endocrine tumours; Multiple endocrine neoplasia type 1 to Multiple endocrine tumours; Multiple endocrine neoplasia type 1; Endocrine neoplasia Panel types changed to Rare Disease 100K |
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple endocrine tumours v1.7 |
Ellen McDonagh Panel name changed from Multiple endocrine neoplasia type 1 to Endocrine neoplasia List of related panels changed from Multiple endocrine tumours to Multiple endocrine tumours; Multiple endocrine neoplasia type 1 |
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple endocrine tumours v1.6 |
Ellen McDonagh Panel name changed from Multiple endocrine tumours to Multiple endocrine neoplasia type 1 List of related panels changed from to Multiple endocrine tumours Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual |
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||