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Severe Paediatric Disorders v0.12 | VHL | Louise Daugherty reviewed gene: VHL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | VHL | Louise Daugherty Publications for gene VHL were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | VHL | Louise Daugherty Added phenotypes Erythrocytosis, familial, 2, 263400; von Hippel-Lindau syndrome, 193300; Pheochromocytoma, 171300 for gene: VHL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | VHL | Louise Daugherty Added phenotypes Erythrocytosis, familial, 2, 263400; von Hippel-Lindau syndrome, 193300; Pheochromocytoma, 171300 for gene: VHL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | VHL | Louise Daugherty Added phenotypes Erythrocytosis, familial, 2, 263400; von Hippel-Lindau syndrome, 193300; Pheochromocytoma, 171300 for gene: VHL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | VHL | Louise Daugherty Added phenotypes Erythrocytosis, familial, 2, 263400; Pheochromocytoma, 171300; von Hippel-Lindau syndrome, 193300 for gene: VHL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | VHL |
Louise Daugherty Mode of inheritance for gene VHL was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Erythrocytosis, familial, 2, 263400; von Hippel-Lindau syndrome, 193300; Pheochromocytoma, 171300 for gene: VHL |
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Severe Paediatric Disorders v0.7 | VHL | Louise Daugherty Source Next Generation Children Project was added to VHL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | VHL |
Louise Daugherty Source Expert Review Green was added to VHL. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | VHL |
Louise Daugherty gene: VHL was added gene: VHL was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: VHL was set to |