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Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.19 | 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 excluding NF1 v1.18 | 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 excluding NF1 v1.17 | VHL | Ivone Leong Publications for gene: VHL were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 | VHL | Ivone Leong Marked gene: VHL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 | VHL | Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 | VHL | Ivone Leong Gene: vhl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.4 | VHL |
Ivone Leong gene: VHL was added gene: VHL was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: VHL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: VHL were set to von Hippel-Lindau syndrome, 193300Renal cell carcinoma, somatic, 144700Pheochromocytoma, 171300Hemangioblastoma, cerebellar, somaticErythrocytosis, familial, 2, 263400 |