ACTIONABILITY KNOWLEDGE REPOSITORY
ACTIONABILITY CURATION INTERFACE
Pediatric Summary Report Secondary Findings in Pediatric Subjects Non-diagnostic, excludes newborn screening & prenatal testing/screening Permalink P Current Version Rule-Out Dashboard Release History Status (Pediatric): Incomplete (Consensus scoring is Incomplete) Curation Status (Pediatric): Entered 0.0.0 Status (Adult): Passed (Consensus scoring is Complete) A
GENE/GENE PANEL:
PYGM
Condition:
Glycogen Storage Disease V
Mode(s) of Inheritance:
Autosomal Recessive
Actionability Assertion
Gene Condition Pairs(s)
Final Assertion
PYGM⇔0009293 (glycogen storage disease v)
Assertion Pending
Actionability Rationale
This topic was initially scored prior to development of the process for making actionability assertions. The Actionability Working Group decided to defer making an assertion until after the topic could be reviewed through the update process.
Topic
Narrative Description of Evidence
Ref
1. What is the nature of the threat to health for an individual carrying a deleterious allele?
Prevalence of the Genetic Condition
No prevalence of the genetic disorder information has been provided for the Pediatric context.
Clinical Features
(Signs / symptoms)
(Signs / symptoms)
No clinical features have been provided for the Pediatric context.
Natural History
(Important subgroups & survival / recovery)
(Important subgroups & survival / recovery)
No natural history has been provided for the Pediatric context.
2. How effective are interventions for preventing harm?
Information on the effectiveness of the recommendations below was not provided unless otherwise stated.
Information on the effectiveness of the recommendations below was not provided unless otherwise stated.
Patient Management
No patient management recommendations have been provided for the Pediatric context.
Surveillance
No surveillance recommendations have been provided for the Pediatric context.
Circumstances to Avoid
No circumstances-to-avoid recommendations have been provided for the Pediatric context.
3. What is the chance that this threat will materialize?
Mode of Inheritance
No mode of inheritance information has been provided for the Pediatric context.
Prevalence of Genetic Variants
No genetic variant prevalence information has been provided for the Pediatric context.
Penetrance
(Include any high risk racial or ethnic subgroups)
(Include any high risk racial or ethnic subgroups)
Information on the penetrance of variants was not available for the Pediatric context.
Relative Risk
(Include any high risk racial or ethnic subgroups)
(Include any high risk racial or ethnic subgroups)
Information on relative risk was not available for the Pediatric context.
Expressivity
Information on variable expressivity was not available for the Pediatric context.
4. What is the Nature of the Intervention?
Nature of Intervention
No nature of intervention information has been provided for the Pediatric context.
5. Would the underlying risk or condition escape detection prior to harm in the setting of recommended care?
Chance to Escape Clinical Detection
No information about escaping detection has been provided for the Pediatric context.
Description of sources of evidence:
Tier 1: Evidence from a systematic review, or a meta-analysis or clinical practice guideline clearly based on a systematic review.
Tier 2: Evidence from clinical practice guidelines or broad-based expert consensus with non-systematic evidence review.
Tier 3: Evidence from another source with non-systematic review of evidence with primary literature cited.
Tier 4: Evidence from another source with non-systematic review of evidence with no citations to primary data sources.
Tier 5: Evidence from a non-systematically identified source.