{ "@context": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/context/doc", "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076", "id": "CG-AC:AC076", "type": "ClinicalActionabilityReport", "metadata": { "schemaLabel": "AC-Sepio.Beta-1 (Unofficial)", "contentVersionId": "26948", "producedAtUTC": "Thu, 10 Sep 2026 20:41:36 -0000", "note": "DISCLAIMER: The SEPIO-inspired schema presented here is an initial prototype for Clinical Actionability curation summaries and has not been reviewed nor finalized by the ClinGen Data Exchange Modeling Team. We expect it to differ significantly from the final schema." }, "description": "JSON-LD representation of ClinGen Actionability Stage 2 report modeled with SEPIO. The hierarchically structured document will include:\n1. Contextual & topic information, such as the **conditions/diseases** and the **genes**.\n2. Categorized **evidence narratives**, with references.\n\t* This content corresponds to the texts within the *Actionability Summary Report*\n4. **Outcome & Intervention** pairs, with **consensus scoring** in 5 dimensions:\n\t1. Outcome Severity\n\t2. Outcome Likelihood\n\t3. Intervention Effectiveness\n\t4. Nature of the Intervention\n\t5. Total (Overall) Score\n\n*( Note: The summary report does not include the **Screening Survey** which led to preparation of the actionability report. )", "condition": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/co", "id": "CG-AC:AC076/co", "type": "GeneticCondition", "label": "Malignant Hyperthermia Susceptibility", "description": "Skeletal muscle disorder where a malignant hyperthermia episode is triggered by exposure to commonly used anesthetic agents. Episodes are characterized by hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. It is one of the main causes of death due to anesthesia." }, "outcome": [ { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/ou/Malignant%20hyperthermia%20event", "id": "CG-AC:AC076/ou/Malignant hyperthermia event", "type": "Outcome", "label": "Malignant hyperthermia event" } ], "intervention": [ { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/intv/Avoidance%20of%20triggering%20anesthetics", "id": "CG-AC:AC076/intv/Avoidance of triggering anesthetics", "type": "Intervention", "label": "Avoidance of triggering anesthetics" }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/intv/Awareness%20of%20high-risk%20situations", "id": "CG-AC:AC076/intv/Awareness of high-risk situations", "type": "Intervention", "label": "Awareness of high-risk situations" } ], "clinicalActionabilityProfile": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/cap", "id": "CG-AC:AC076/cap", "type": "Assertion", "assertionMethod": "The ClinGen AWG developed a standardized protocol to generate evidence-based profiles of clinical actionability of genes and associated disorders in the form of summary reports and semiquantitative metric (SQM) scores.", "releaseDate": "Wed, 09 Feb 2022 00:00:00 -0000", "releaseNum": "2.0.1", "media": "call" }, "evidenceStatements": { "evidenceNarratives": [ { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/en/nh", "id": "CG-AC:AC076/en/nh", "type": "EvidenceNarrative", "narrative": "In nearly all cases, the first manifestations of MH occurs during anesthetization in the operating room, though manifestations may also occur within an hour or so of anesthesia termination. MH presentation can vary depending on the triggering agents and environmental factors, such as metabolic state and body temperature, at the beginning of anesthesia. Without proper and prompt treatment with dantrolene, mortality is extremely high, up to 80%. Even with treatment and survival, the individual is at risk for life-threatening consequences and recurrence of the syndrome within the first 24-36 hours following an episode. A study of the North American MH registry showed that nonfatal complications occurred in 35% of affected cases reported from 1987 to 2006. Complications included cardiac, renal, or hepatic dysfunction; coma or change in consciousness; pulmonary edema; and disseminated intravascular coagulation. A significant male preponderance has been reported. All ethnicities are affected.", "evidenceDomainTag": "Nature of the Threat.Natural History", "publication": [ "CG-AC:RF000331", "CG-AC:RF000133", "CG-AC:RF000341", "CG-AC:RF003084", "CG-AC:RF003086" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/en/potgd", "id": "CG-AC:AC076/en/potgd", "type": "EvidenceNarrative", "narrative": "The incidence of malignant hyperthermia (MH) is best described by the reported incidence per anesthetic. Incidence estimates for MH range from 1/3000 to 1/500,000 anesthetics. Most report an incidence of about 1/10,000 anesthetics in children and 1/50,000 in adults. MHS has an estimated prevalence of 1/60,000-1/100,000. The prevalence of MH in individuals undergoing surgery in New York state hospitals was estimated as 1/100,000 for adults and 3/100,000 children. However, as many individuals undergoing surgery who experience marked hyperthermia may be coded as being MH susceptible, the exact incidence and prevalence has been difficult to clarify. It seems certain that there are more than 1,000 cases of MH in the US each year.", "evidenceDomainTag": "Nature of the Threat.Prevalence of the Genetic Disorder", "publication": [ "CG-AC:RF000331", "CG-AC:RF000132", "CG-AC:RF000133", "CG-AC:RF000341", "CG-AC:RF003084", "CG-AC:RF003085", "CG-AC:RF003086", "CG-AC:RF003087" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/en/cf", "id": "CG-AC:AC076/en/cf", "type": "EvidenceNarrative", "narrative": "MH susceptibility (MHS) is a pharmacogenetic skeletal muscle disorder where exposure to certain volatile anesthetics (i.e., desflurane, enflurane, halothane, isoflurane, sevoflurane), either alone or with a depolarizing muscle relaxant (succinylcholine), may trigger uncontrolled skeletal muscle hypermetabolism. An MH episode may begin with hypercapnia, rapidly rising end-tidal CO2, and tachycardia followed by hyperthermia. Additional symptoms may include acidosis, muscle rigidity, compartment syndrome, rhabdomyolysis and subsequent increased creatine kinase, hyperkalemia with a risk for cardiac arrhythmia or even arrest, and myoglobinuria with a risk for renal failure. \n\nThere is mounting evidence that some individuals with MHS may also develop episodes triggered by non-anesthetic conditions such as heat and/or exercise. These non-anesthetic-induced episodes, often called MH-like syndrome, may manifest as exertional rhabdomyolysis (ER). Clinical features are similar to MH and include muscle cramps, elevated temperature, tachycardia, tachypnea, hyperkalemia, and elevated levels of serum myoglobin and creatine kinase. Reports of heat and exercise-induced MH-like reactions in patients with MHS and patients with ER who test positive for MH support an association, though more evidence is needed.", "evidenceDomainTag": "Nature of the Threat.Clinical Features", "publication": [ "CG-AC:RF000331", "CG-AC:RF000133", "CG-AC:RF000341", "CG-AC:RF003084", "CG-AC:RF003085", "CG-AC:RF003086", "CG-AC:RF003088", "CG-AC:RF003089", "CG-AC:RF003090" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/en/ACMI2593", "id": "CG-AC:AC076/en/ACMI2593", "type": "EvidenceNarrative", "narrative": "Autosomal Dominant", "evidenceDomainTag": "Threat Materialization Chances.Modes of Inheritance", "publication": [ "CG-AC:RF000331", "CG-AC:RF000133", "CG-AC:RF000341", "CG-AC:RF003084", "CG-AC:RF003085", "CG-AC:RF003090" ] } ], "tieredEvidenceNarratives": [ { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/ten/NOI2727", "id": "CG-AC:AC076/ten/NOI2727", "type": "TieredEvidenceNarrative", "narrative": "The interventions identified include avoidance of certain anesthetic agents and potential avoidance of heat and heavy exercise. These interventions are mildly burdensome and pose minimal risk.", "evidenceDomainTag": "Acceptability of Intervention.Natures of Intervention" }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/ten/CDEC2719", "id": "CG-AC:AC076/ten/CDEC2719", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "4", "narrative": "Under usual care, a patient may be exposed to a triggering anesthetic agent which could result in high morbidity or potential mortality. However, it should be noted that modern anesthetic care and monitoring often allow early detection of MH.", "evidenceDomainTag": "Condition Escape Detection.Chances to Escape Clinical Detection", "publication": [ "CG-AC:RF000331" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/ten/PGM2669", "id": "CG-AC:AC076/ten/PGM2669", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "3", "narrative": "Pathogenic variants in RYR1 are identified in up to 50-75% of MHS cases, while pathogenic variants in CACNA1S account for about 1% of cases.", "evidenceDomainTag": "Threat Materialization Chances.Prevalences of the Genetic Mutation", "publication": [ "CG-AC:RF000331", "CG-AC:RF003084", "CG-AC:RF003086" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/ten/RR2563", "id": "CG-AC:AC076/ten/RR2563", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "Not provided", "narrative": "Information on relative risk was not available.", "evidenceDomainTag": "Threat Materialization Chances.Relative Risks" }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/ten/EN2724", "id": "CG-AC:AC076/ten/EN2724", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "3", "narrative": "A genetically susceptible patient may manifest clinical signs at any point in their life.", "evidenceDomainTag": "Threat Materialization Chances.Expressivity Notes", "publication": [ "CG-AC:RF003084" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/ten/EN2725", "id": "CG-AC:AC076/ten/EN2725", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "4", "narrative": "An MH episode may not occur with every exposure to \"trigger\" agents. Clinical manifestation may depend on genetic predisposition, dose of trigger agents, or duration of exposure.", "evidenceDomainTag": "Threat Materialization Chances.Expressivity Notes", "publication": [ "CG-AC:RF000331" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/ten/ACPE3786", "id": "CG-AC:AC076/ten/ACPE3786", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "Not provided", "narrative": "The penetrance of MHS associated with CACNA1S is unknown.", "evidenceDomainTag": "Threat Materialization Chances.Penetrances" }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/ten/ACPE3785", "id": "CG-AC:AC076/ten/ACPE3785", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "3", "narrative": "In a multicenter case-control study from 125 MH pedigrees, the overall penetrance for RYR1-related MHS was 40.6%. Penetrance was based on the number of probands who were survivors of an MH event among all genotype-positives who had at least one exposure to a triggering anesthetic. Proband median age was 12 years. Penetrance in males was significantly higher than in females (50% vs. 29.7%, p=0.002).", "evidenceDomainTag": "Threat Materialization Chances.Penetrances", "publication": [ "CG-AC:RF000331" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/ten/PGM2670", "id": "CG-AC:AC076/ten/PGM2670", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "3", "narrative": "One study used RYR1 and CACNA1S genomic databases to estimate the prevalence of an MHS-related pathogenic variant as 1/1556.", "evidenceDomainTag": "Threat Materialization Chances.Prevalences of the Genetic Mutation", "publication": [ "CG-AC:RF000331" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/ten/PGM2672", "id": "CG-AC:AC076/ten/PGM2672", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "3", "narrative": "For RYR1, one study identified a prevalence of 0.46% (4/870) for MHS-related RYR1 pathogenic variants. In a second study, based on genetic variation data of more than 60,000 individuals, the combined prevalence of MHS-related RYR1 pathogenic variants was estimated as 1/2750.", "evidenceDomainTag": "Threat Materialization Chances.Prevalences of the Genetic Mutation", "publication": [ "CG-AC:RF000331", "CG-AC:RF003084" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/ten/PGM2671", "id": "CG-AC:AC076/ten/PGM2671", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "1", "narrative": "A systematic review identified MH-related pathogenic variants in RYR1 and CACNA1S in 78% of patients with a history of ER.", "evidenceDomainTag": "Threat Materialization Chances.Prevalences of the Genetic Mutation", "publication": [ "CG-AC:RF003088" ] } ], "tieredRecommendations": [ { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/tr/ACCA3163", "id": "CG-AC:AC076/tr/ACCA3163", "type": "TieredRecommendation", "evidenceSourceTier": "3", "recommendation": "Serotonin antagonist (5HT3-antagonist) antiemetics should be used cautiously. Sudden death was reported in a child with multiminicore disease caused by a pathogenic variant in RYR1 after receiving a therapeutic dose of ondansetron.", "evidenceDomainTag": "Effectiveness of Intervention.Circumstances to Avoid", "publication": [ "CG-AC:RF000331" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/tr/ACCA3165", "id": "CG-AC:AC076/tr/ACCA3165", "type": "TieredRecommendation", "evidenceSourceTier": "3", "recommendation": "In individuals with MH undergoing cardiac bypass surgery, aggressive rewarming should be avoided, as it is associated with development of clinical signs of MH.", "evidenceDomainTag": "Effectiveness of Intervention.Circumstances to Avoid", "publication": [ "CG-AC:RF000331" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/tr/ACCA3164", "id": "CG-AC:AC076/tr/ACCA3164", "type": "TieredRecommendation", "evidenceSourceTier": "2", "recommendation": "MHS patients who have not experienced adverse effects of heat and exercise should not restrict their activity. However, athletes with MHS should develop an MH-specific emergency action plan and prepare an on-site cooling plan. Athletes with MHS should not exercise alone and should notify their medical providers (e.g., athletic trainer, team physician) about the condition. Those who have experienced adverse effects of heat or exercise should restrict their activity based on their own experience.", "evidenceDomainTag": "Effectiveness of Intervention.Circumstances to Avoid", "publication": [ "CG-AC:RF003084", "CG-AC:RF003089" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/tr/ACCA3162", "id": "CG-AC:AC076/tr/ACCA3162", "type": "TieredRecommendation", "evidenceSourceTier": "2", "recommendation": "Do not use the following MH triggering drugs for MHS patients: inhaled general anesthetics (desflurane, enflurane, halothane, isoflurane, sevoflurane) and depolarizing muscle relaxants (succinylcholine).", "evidenceDomainTag": "Effectiveness of Intervention.Circumstances to Avoid", "publication": [ "CG-AC:RF000133", "CG-AC:RF003086", "CG-AC:RF003087" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/tr/ACPM5073", "id": "CG-AC:AC076/tr/ACPM5073", "type": "TieredRecommendation", "evidenceSourceTier": "2", "recommendation": "MHS patients should carry identification of their susceptibility and inform those responsible for their care of their MH status.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF003089" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/tr/ACPM5075", "id": "CG-AC:AC076/tr/ACPM5075", "type": "TieredRecommendation", "evidenceSourceTier": "4", "recommendation": "If a pregnant woman with MHS requires non-emergent surgery, a non-triggering anesthetic (local, nerve block, epidural, spinal anesthesia or a total intravenous general anesthetic) should be administered. Continuous epidural analgesia is highly recommended for labor and delivery. If a Cesarean delivery is indicated in a woman who does not have an epidural catheter in place, neuraxial (spinal, epidural, or combined spinalepidural) anesthesia is recommended, if not otherwise contraindicated. If a general anesthetic is indicated, a total intravenous anesthetic technique should be administered, with an anesthesia machine that has been prepared for an MH-susceptible individual.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF000331" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/tr/ACPM5076", "id": "CG-AC:AC076/tr/ACPM5076", "type": "TieredRecommendation", "evidenceSourceTier": "3", "recommendation": "Surgical management recommendations include preparation of the anesthesia workstation to reduce or prevent exposure to triggering anesthetics (e.g., remove vaporizers from machine and replace all disposables), vigilant monitoring for signs and symptoms of MH during perioperative period, and close observation and monitoring postoperatively.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF003086", "CG-AC:RF003087" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/tr/ACPM5074", "id": "CG-AC:AC076/tr/ACPM5074", "type": "TieredRecommendation", "evidenceSourceTier": "Not provided", "recommendation": "The American College of Medical Genetics and Genomics (ACMG) has developed an ACT sheet to help clinical decision-making following identification of RYR1 and/or CACNA1S pathogenic variant(s) as a secondary finding: https://www.acmg.net/PDFLibrary/Malignant-Hyperthermia.pdf", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements" } ] }, "evidenceCategory": { "outcomeEvidenceItem": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/oei", "id": "CG-AC:AC076/oei", "type": "EvidenceItem", "natureOfTheThreat": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/oei/nott", "id": "CG-AC:AC076/oei/nott", "type": "EvidenceLine", "prevalenceOfTheGeneticDisorder": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/oei/pgd", "id": "CG-AC:AC076/oei/pgd", "type": "EvidenceItem", "keyText": "< 1-2 in 100000", "sourceOfPopulation": "General population", "evidenceNarrative": { "@id": "CG-AC:AC076/en/potgd" } }, "clinicalFeatures": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/oei/cf", "id": "CG-AC:AC076/oei/cf", "type": "EvidenceItem", "evidenceNarrative": { "@id": "CG-AC:AC076/en/cf" } }, "naturalHistory": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/oei/nh", "id": "CG-AC:AC076/oei/nh", "type": "EvidenceItem", "evidenceNarrative": { "@id": "CG-AC:AC076/en/nh" } } }, "threatMaterializationChances": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/oei/tmc", "id": "CG-AC:AC076/oei/tmc", "type": "EvidenceLine", "modeOfInheritance": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/oei/moi", "id": "CG-AC:AC076/oei/moi", "type": "EvidenceItem", "keyText": "Autosomal Dominant", "evidenceNarrative": { "@id": "CG-AC:AC076/en/ACMI2593" } }, "prevalenceOfTheGeneticMutation": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/oei/pgm", "id": "CG-AC:AC076/oei/pgm", "type": "EvidenceItem", "keyText": "1-2 in 500", "sourceOfPopulation": "General population", "tieredEvidenceNarrative": { "@id": "CG-AC:AC076/ten/PGM2670" } }, "penetrance": [ { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/oei/pe/ACPE3785", "id": "CG-AC:AC076/oei/pe/ACPE3785", "type": "EvidenceItem", "keyText": ">= 40 %", "tieredEvidenceNarrative": { "@id": "CG-AC:AC076/ten/ACPE3785" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/oei/pe/ACPE3786", "id": "CG-AC:AC076/oei/pe/ACPE3786", "type": "EvidenceItem", "keyText": "Unknown", "tieredEvidenceNarrative": { "@id": "CG-AC:AC076/ten/ACPE3786" } } ], "relativeRisk": [ { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/oei/rr/RR2563", "id": "CG-AC:AC076/oei/rr/RR2563", "type": "EvidenceItem", "keyText": "Unknown", "tieredEvidenceNarrative": { "@id": "CG-AC:AC076/ten/RR2563" } } ], "expressivity": [ { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/oei/ex/EN2725", "id": "CG-AC:AC076/oei/ex/EN2725", "type": "EvidenceItem", "tieredEvidenceNarrative": { "@id": "CG-AC:AC076/ten/EN2725" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/oei/ex/EN2724", "id": "CG-AC:AC076/oei/ex/EN2724", "type": "EvidenceItem", "tieredEvidenceNarrative": { "@id": "CG-AC:AC076/ten/EN2724" } } ] } }, "interventionEvidenceItem": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/iei", "id": "CG-AC:AC076/iei", "type": "EvidenceItem", "acceptabilityOfIntervention": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/iei/aoi", "id": "CG-AC:AC076/iei/aoi", "type": "EvidenceLine", "natureOfIntervention": [ { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/iei/noi/NOI2727", "id": "CG-AC:AC076/iei/noi/NOI2727", "type": "EvidenceItem", "tieredEvidenceNarrative": { "@id": "CG-AC:AC076/ten/NOI2727" } } ] }, "effectivenessOfIntervention": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/iei/eoi", "id": "CG-AC:AC076/iei/eoi", "type": "EvidenceLine", "patientManagement": [ { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/iei/pm/ACPM5074", "id": "CG-AC:AC076/iei/pm/ACPM5074", "type": "EvidenceItem", "tieredRecommendation": { "@id": "CG-AC:AC076/tr/ACPM5074" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/iei/pm/ACPM5076", "id": "CG-AC:AC076/iei/pm/ACPM5076", "type": "EvidenceItem", "tieredRecommendation": { "@id": "CG-AC:AC076/tr/ACPM5076" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/iei/pm/ACPM5075", "id": "CG-AC:AC076/iei/pm/ACPM5075", "type": "EvidenceItem", "tieredRecommendation": { "@id": "CG-AC:AC076/tr/ACPM5075" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/iei/pm/ACPM5073", "id": "CG-AC:AC076/iei/pm/ACPM5073", "type": "EvidenceItem", "tieredRecommendation": { "@id": "CG-AC:AC076/tr/ACPM5073" } } ], "circumstanceToAvoid": [ { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/iei/cta/ACCA3162", "id": "CG-AC:AC076/iei/cta/ACCA3162", "type": "EvidenceItem", "tieredRecommendation": { "@id": "CG-AC:AC076/tr/ACCA3162" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/iei/cta/ACCA3164", "id": "CG-AC:AC076/iei/cta/ACCA3164", "type": "EvidenceItem", "tieredRecommendation": { "@id": "CG-AC:AC076/tr/ACCA3164" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/iei/cta/ACCA3165", "id": "CG-AC:AC076/iei/cta/ACCA3165", "type": "EvidenceItem", "tieredRecommendation": { "@id": "CG-AC:AC076/tr/ACCA3165" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/iei/cta/ACCA3163", "id": "CG-AC:AC076/iei/cta/ACCA3163", "type": "EvidenceItem", "tieredRecommendation": { "@id": "CG-AC:AC076/tr/ACCA3163" } } ] }, "conditionEscapeDetection": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/iei/ced", "id": "CG-AC:AC076/iei/ced", "type": "EvidenceLine", "chanceToEscapeDetection": [ { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076/iei/cted/CDEC2719", "id": "CG-AC:AC076/iei/cted/CDEC2719", "type": "EvidenceItem", "tieredEvidenceNarrative": { "@id": "CG-AC:AC076/ten/CDEC2719" } } ] } } }, "references": [ { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/RF000132", "id": "CG-AC:RF000132", "type": "Publication", "publicationType": "PMID", "citation": "Rosenberg H, Rueffert H. 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