ACTIONABILITY KNOWLEDGE REPOSITORY
ACTIONABILITY CURATION INTERFACE
Update History
Condition: Von Hippel-Lindau Syndrome
Gene/Gene Panel: VHL
Context: Pediatric
2022/03/17
Released
1.0.0
Morbidity (retinal detachment and vision loss) from retinal hemangioblastomas
(GroupA)
Evaluation by specialist and dilated retinal exam to detect lesions and guide treatment
(GroupA)
8CD
Morbidity and mortality from CNS hemangioblastomas
(GroupA)
Imaging to detect CNS hemangioblastomas and guide treatment
(GroupA)
9AB
Morbidity and mortality from non-CNS VHL-related tumors
(GroupA)
Evaluation by specialist and imaging to detect tumors (or precursors) and guide treatment
(GroupA)
8AB
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
VHL
⇔
0008667 VON HIPPEL-LINDAU SYNDROME; VHLS
Moderate Actionability
Moderate Actionability
2020/02/19
In Preparation
N/A
We have begun assessment of the Pediatric context for this topic