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| Inherited phaeochromocytoma and paraganglioma v1.11 | SDHA | Arina Puzriakova Phenotypes for gene: SDHA were changed from Leigh syndrome, 256000Mitochondrial respiratory chain complex II deficiency, 252011Cardiomyopathy, dilated, 1GG, 613642Paragangliomas 5, 614165; Hereditary Paraganglioma-Pheochromocytoma Syndrome to Paragangliomas 5, OMIM:614165 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma v1.10 | SDHB | Arina Puzriakova Phenotypes for gene: SDHB were changed from Paraganglioma and Gastric Stromal Sarcoma; Paragangliomas 4, 115310Pheochromocytoma, 171300Paraganglioma and gastric stromal sarcoma, 606864Cowden syndrome 2, 612359Gastrointestinal stromal tumor, 606764 to Paragangliomas 4, OMIM:115310; Pheochromocytoma, OMIM:171300; Paraganglioma and gastric stromal sarcoma, OMIM:606864 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma v1.9 | VHL | Ivone Leong Phenotypes for gene: VHL were changed from Pheochromocytoma, OMIM:171300 to Pheochromocytoma, OMIM:171300; von Hippel-Lindau syndrome, OMIM:193300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma v1.8 | VHL | Ivone Leong Publications for gene: VHL were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma v1.7 | VHL | Ivone Leong Phenotypes for gene: VHL were changed from von Hippel-Lindau syndrome, 193300Renal cell carcinoma, somatic, 144700Pheochromocytoma, 171300Hemangioblastoma, cerebellar, somaticErythrocytosis, familial, 2, 263400 to Pheochromocytoma, OMIM:171300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma v1.6 | MDH2 | Ivone Leong Added comment: Comment on publications: Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene. J. Natl. Cancer Inst. J Natl Cancer Inst 2015 May 11;107(5). Epub 2015 Mar 11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma v1.6 | MDH2 | Ivone Leong Publications for gene: MDH2 were set to Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene. J. Natl. Cancer Inst. J Natl Cancer Inst 2015 May 11; 107(5). Epub 2015 Mar 11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma v1.5 | PRKAR1A | Ivone Leong reviewed gene: PRKAR1A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma v1.5 | Ivone Leong Panel types changed to Rare Disease 100K | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma v1.3 |
Ellen McDonagh Panel name changed from Neuro-endocrine Tumours- PCC and PGL to Inherited phaeochromocytoma and paraganglioma List of related panels changed from to Neuro-endocrine Tumours- PCC and PGL Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual |
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