{ "@context": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/context/doc", "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC063", "id": "CG-AC:AC063", "type": "ClinicalActionabilityReport", "metadata": { "schemaLabel": "AC-Sepio.Beta-1 (Unofficial)", "contentVersionId": "30303", "producedAtUTC": "Thu, 10 Sep 2026 19:39:34 -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/Pediatric/api/sepio/doc/AC063/co", "id": "CG-AC:AC063/co", "type": "GeneticCondition", "label": "Hereditary Neuropathy with Liability to Pressure Palsies", "description": "Nerve disorder that affects the peripheral nerves. Pressure on the nerves can cause tingling sensations, numbness, pain, weakness, muscle atrophy, and paralyzation of the affected area. Symptoms can take an extended period of time to subside, where palsies can last from minutes, day to weeks, and even months or years. Repeated incidence can cause permanent muscle weakness." }, "outcome": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC063/ou/Neuropathy", "id": "CG-AC:AC063/ou/Neuropathy", "type": "Outcome", "label": "Neuropathy" } ], "intervention": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC063/intv/Avoidance%20of%20triggers%20and%20neurotoxic%20drugs", "id": "CG-AC:AC063/intv/Avoidance of triggers and neurotoxic drugs", "type": "Intervention", "label": "Avoidance of triggers and neurotoxic drugs" } ], "clinicalActionabilityProfile": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC063/cap", "id": "CG-AC:AC063/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": "Tue, 29 Oct 2024 00:00:00 -0000", "releaseNum": "2.0.0", "media": "call" }, "evidenceStatements": { "evidenceNarratives": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC063/en/potgd", "id": "CG-AC:AC063/en/potgd", "type": "EvidenceNarrative", "narrative": "The prevalence of hereditary neuropathy with liability to pressure palsies (HNPP) is not well known, though it has been estimated between 1/50,000 and 1/6,250 in different populations. The actual prevalence may be higher because of under diagnosis.", "evidenceDomainTag": "Nature of the Threat.Prevalence of the Genetic Disorder", "publication": [ "CG-AC:RF000322", "CG-AC:RF003776", "CG-AC:RF000094", "CG-AC:RF000321" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC063/en/nh", "id": "CG-AC:AC063/en/nh", "type": "EvidenceNarrative", "narrative": "Most individuals with HNPP typically experience their first episode in the second or third decade at a mean age of 37 years (age range 2-70 years), but with a large range from birth through the eighth decade. While the nerve palsies often recur over a period of many years, some individuals have a single episode, and some remain asymptomatic. In 50% of cases, recovery from the acute neuropathy is complete within a few days to months. Incomplete recovery is common, though the resulting disability is rarely severe. Chronic motor deficits after nerve palsies are noted in 10-15%. In rare cases, strenuous activities can lead to severe and prolonged limb paralysis. Nerve palsies and electrophysiologic abnormalities are more frequent in men than women. Occasional episodes have been reported during pregnancy, likely related to physiological changes. Older patients often develop a symmetric sensory motor polyneuropathy. HNPP is not life threatening, and patients have a normal life expectancy.", "evidenceDomainTag": "Nature of the Threat.Natural History", "publication": [ "CG-AC:RF000322", "CG-AC:RF003776", "CG-AC:RF000094", "CG-AC:RF000321", "CG-AC:RF003777" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC063/en/cf", "id": "CG-AC:AC063/en/cf", "type": "EvidenceNarrative", "narrative": "HNPP is characterized by episodic focal motor and sensory peripheral neuropathies. Individuals with HNPP present with variously located recurrent peripheral nerve palsies, or sensory loss. The most common initial manifestations include the acute onset of a focal sensory and motor neuropathy in a single nerve (mononeuropathy). These attacks are typically painless. In many cases these symptoms are triggered by mechanical stresses to the nerve, such as compression, repetitive movement and/or stretching of the affected limbs. Common clinical manifestations include carpal tunnel syndrome, hand numbness and weakness, arm weakness, sensory loss, and peroneal palsy with foot drop. Neuropathic pain is increasingly recognized as a common manifestation. Absent deep tendon reflexes and pes cavus foot deformity are seen in some individuals.\n\nAtypical presentations of HNPP are common and can include recurrent positional short-term sensory symptoms, progressive sensorimotor mononeuropathy, Charcot-Marie-Tooth like polyneuropathy, chronic sensory polyneuropathy, and chronic inflammatory demyelinating polyneuropathy-like disorder.", "evidenceDomainTag": "Nature of the Threat.Clinical Features", "publication": [ "CG-AC:RF000322", "CG-AC:RF003776", "CG-AC:RF000094", "CG-AC:RF000321", "CG-AC:RF003777" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC063/en/ACMI2846", "id": "CG-AC:AC063/en/ACMI2846", "type": "EvidenceNarrative", "narrative": "Autosomal Dominant", "evidenceDomainTag": "Threat Materialization Chances.Modes of Inheritance", "publication": [ "CG-AC:RF000321" ] } ], "tieredEvidenceNarratives": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC063/ten/NOI3039", "id": "CG-AC:AC063/ten/NOI3039", "type": "TieredEvidenceNarrative", "narrative": "Potential interventions include examinations (physical exam, nerve conduction studies) and avoidance of certain triggers and medications. Nerve conduction studies are generally well tolerated and pose little risk to patients of serious adverse events. Mild procedural pain and discomfort are very common (≥1 in 10 persons). The discomfort, or mild pain experienced by some patients, following the application of electrical stimulation during nerve conduction studies is transient and self-limiting and will not initiate or aggravate pre-existing symptoms beyond the duration of the actual investigation. Vincristine is the most used vinca alkaloid in pediatric patients. Treatment substitution with the pharmacologically similar, but possibly less neurotoxic, vindesine has been reported to be successful in one individual with CMT1A.", "evidenceDomainTag": "Acceptability of Intervention.Natures of Intervention", "publication": [ "CG-AC:RF003703", "CG-AC:RF003781" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC063/ten/CDEC3086", "id": "CG-AC:AC063/ten/CDEC3086", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "5", "narrative": "In a study of 73 individuals (mean age 43 years; range 17 to 84 years) with HNPP that were followed at a single center over a 20-year period, six individuals (8%) experienced more than one episode before the diagnosis.", "evidenceDomainTag": "Condition Escape Detection.Chances to Escape Clinical Detection", "publication": [ "CG-AC:RF003780" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC063/ten/CDEC3085", "id": "CG-AC:AC063/ten/CDEC3085", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "4", "narrative": "The signs and symptoms of compression neuropathy in HNPP are the same as those of the acquired type. HNPP can mimic the symptoms of carpal tunnel syndrome.", "evidenceDomainTag": "Condition Escape Detection.Chances to Escape Clinical Detection", "publication": [ "CG-AC:RF003776", "CG-AC:RF000321" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC063/ten/CDEC3084", "id": "CG-AC:AC063/ten/CDEC3084", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "3", "narrative": "HNPP is probably underdiagnosed because it typically has episodic and transient clinical manifestations.", "evidenceDomainTag": "Condition Escape Detection.Chances to Escape Clinical Detection", "publication": [ "CG-AC:RF003776" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC063/ten/RR2775", "id": "CG-AC:AC063/ten/RR2775", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "Not provided", "narrative": "Information regarding relative risk was unavailable.", "evidenceDomainTag": "Threat Materialization Chances.Relative Risks" }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC063/ten/PGM3021", "id": "CG-AC:AC063/ten/PGM3021", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "3", "narrative": "A 1.5 megabase recurrent deletion or a novel deletion involving PMP22 is found in 80% of individuals and a PMP22 sequence variant in 20%. Approximately 20% of individuals with HNPP have the disorder as the result of a de novo variant.", "evidenceDomainTag": "Threat Materialization Chances.Prevalences of the Genetic Mutation", "publication": [ "CG-AC:RF000094", "CG-AC:RF000321" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC063/ten/PGM3020", "id": "CG-AC:AC063/ten/PGM3020", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "4", "narrative": "The prevalence of pathogenic variants in PMP22 associated with HNPP was unavailable. However, PMP22 accounts for an estimated 100% of HNPP cases and thus the prevalence of pathogenic variants in PMP22 is expected to be similar to the prevalence of HNPP.", "evidenceDomainTag": "Threat Materialization Chances.Prevalences of the Genetic Mutation", "publication": [ "CG-AC:RF000321" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC063/ten/EN3113", "id": "CG-AC:AC063/ten/EN3113", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "4", "narrative": "Pathogenic single nucleotide variants in PMP22 may result in HNPP or CMT1A.", "evidenceDomainTag": "Threat Materialization Chances.Expressivity Notes", "publication": [ "CG-AC:RF003776" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC063/ten/EN3114", "id": "CG-AC:AC063/ten/EN3114", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "3", "narrative": "There is large clinical variability between individuals with HNPP. At the mild end of the spectrum, individuals can be clinically asymptomatic. At the severe end of the spectrum individuals have residual symptoms after nerve palsies, which can mimic a CMT phenotype. Intrafamilial variability is considerable.", "evidenceDomainTag": "Threat Materialization Chances.Expressivity Notes", "publication": [ "CG-AC:RF000094", "CG-AC:RF000321" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC063/ten/ACPE4583", "id": "CG-AC:AC063/ten/ACPE4583", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "5", "narrative": "Another study reported 73 individuals (mean age 43 years; range 17 to 84 years) with a molecular and clinical diagnosis of HNPP that were followed at a single center over a 20-year period.\n•44% presented with recurrent multiple mononeuropathies, starting acutely without pain, followed by complete recovery\n•16% presented with a history of chronic ulnar neuropathy at the elbow\n•13% presented with symptoms of carpal tunnel syndrome\n•9% presented with a history of lower limb paresthesia\n•9% presented with pes cavus and mild weakness in the intrinsic feet muscles\n•3% had a Guillain-Barre-like presentation\n•12% were asymptomatic for neuropathic symptoms", "evidenceDomainTag": "Threat Materialization Chances.Penetrances", "publication": [ "CG-AC:RF003780" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC063/ten/ACPE4582", "id": "CG-AC:AC063/ten/ACPE4582", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "5", "narrative": "One study reported 99 individuals with a molecular and clinical diagnosis of HNPP that were seen in a single neurogenetic department. Age at exam ranged from 5 to 73 years.\n•71% presented with at least one peripheral nerve palsy. Of these individuals, residual motor deficits at least 3 months after the last acute palsy were observed in 15%.\n•15% presented with uncommon clinical features of HNPP including recurrent short-term positional sensory symptoms, chronic sensory polyneuropathy, chronic paresthesias, pes cavus and areflexia.\n•14% were asymptomatic (age range 5 to 67 years)", "evidenceDomainTag": "Threat Materialization Chances.Penetrances", "publication": [ "CG-AC:RF003779" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC063/ten/ACPE4585", "id": "CG-AC:AC063/ten/ACPE4585", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "4", "narrative": "Mild to moderate pes cavus foot deformity is seen in 4 to 47% of individuals.", "evidenceDomainTag": "Threat Materialization Chances.Penetrances", "publication": [ "CG-AC:RF000094", "CG-AC:RF000321" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC063/ten/ACPE4584", "id": "CG-AC:AC063/ten/ACPE4584", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "3", "narrative": "In one cross-sectional study of 43 individuals with a self-reported molecular diagnosis of HNPP (mean age 47 years), 74% of individuals had persistent pain. Of these, three quarters developed neuropathic pain and almost 90% were likely to have central sensitization (i.e., development and maintenance of chronic pain).", "evidenceDomainTag": "Threat Materialization Chances.Penetrances", "publication": [ "CG-AC:RF000321" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC063/ten/ACPE4587", "id": "CG-AC:AC063/ten/ACPE4587", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "3", "narrative": "Nerve conduction studies reveal diffuse abnormalities in all individuals with pathogenic variants, symptomatic or not, aged more than 15 years.", "evidenceDomainTag": "Threat Materialization Chances.Penetrances", "publication": [ "CG-AC:RF000094", "CG-AC:RF003777" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC063/ten/ACPE4588", "id": "CG-AC:AC063/ten/ACPE4588", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "3", "narrative": "Studies screening relatives of index patients have identified that 6-23% of family members may be asymptomatic. These rates are not reported within the context of the exposure to potential triggers.", "evidenceDomainTag": "Threat Materialization Chances.Penetrances", "publication": [ "CG-AC:RF000094", "CG-AC:RF000321" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC063/ten/ACPE4586", "id": "CG-AC:AC063/ten/ACPE4586", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "4", "narrative": "Penetrance is 100% but expressivity is highly variable even within the same family.", "evidenceDomainTag": "Threat Materialization Chances.Penetrances", "publication": [ "CG-AC:RF000321" ] } ], "tieredRecommendations": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC063/tr/ACCA3756", "id": "CG-AC:AC063/tr/ACCA3756", "type": "TieredRecommendation", "evidenceSourceTier": "3", "recommendation": "Vincristine, used in chemotherapy, has been reported to exacerbate HNPP. A single case report related to this exposure was identified. A 37-year-old male with HNPP developed tetraparesis and severe weakness of the upper and lower extremities following chemotherapy treatment that included vincristine.", "evidenceDomainTag": "Effectiveness of Intervention.Circumstances to Avoid", "publication": [ "CG-AC:RF003776", "CG-AC:RF000094", "CG-AC:RF000321" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC063/tr/ACCA3757", "id": "CG-AC:AC063/tr/ACCA3757", "type": "TieredRecommendation", "evidenceSourceTier": "2", "recommendation": "Caution should be exercised, and patients should be informed about potentially neurotoxic drugs that may worsen their symptoms. A review concluded that use of vincristine (30 included papers), and possibly paclitaxel (6 included papers), can occasionally induce an atypical, and more severe, course of drug-related peripheral neurotoxicity in individuals with CMT (also caused by variants in PMP22). However, it is unclear whether this evidence may apply to HNPP.", "evidenceDomainTag": "Effectiveness of Intervention.Circumstances to Avoid", "publication": [ "CG-AC:RF003693" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC063/tr/ACCA3754", "id": "CG-AC:AC063/tr/ACCA3754", "type": "TieredRecommendation", "evidenceSourceTier": "5", "recommendation": "In a cohort of 12 symptomatic children (age range 3-16 years) with molecularly confirmed HNPP, injury or trigger for demyelination was clearly identified in 42%. Most of the time the trigger was related to heavy pressure (e.g., carried a heavy backpack) or significant weight loss.", "evidenceDomainTag": "Effectiveness of Intervention.Circumstances to Avoid", "publication": [ "CG-AC:RF003783" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC063/tr/ACCA3758", "id": "CG-AC:AC063/tr/ACCA3758", "type": "TieredRecommendation", "evidenceSourceTier": "5", "recommendation": "In a study of 51 individuals with molecularly confirmed HNPP (mean age at diagnosis 20 years; range 10-29 years) 61% had a precipitating factor. Contributing factors included > 1 hour of nerve compression in 54% and minor compression or slight trauma (brief limb hyperextension, crossed leg position, minor fall) in 46%.", "evidenceDomainTag": "Effectiveness of Intervention.Circumstances to Avoid", "publication": [ "CG-AC:RF003778" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC063/tr/ACCA3755", "id": "CG-AC:AC063/tr/ACCA3755", "type": "TieredRecommendation", "evidenceSourceTier": "3", "recommendation": "Activities that are risk factors for pressure palsies include prolonged sitting with legs crossed, prolonged leaning on the elbows, occupations requiring repetitive movements of the wrist, rapid weight loss, and wearing a heavy backpack on the shoulders.", "evidenceDomainTag": "Effectiveness of Intervention.Circumstances to Avoid", "publication": [ "CG-AC:RF000094", "CG-AC:RF000321" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC063/tr/ACSU4057", "id": "CG-AC:AC063/tr/ACSU4057", "type": "TieredRecommendation", "evidenceSourceTier": "4", "recommendation": "The following surveillance is recommended for individuals with HNPP annually:\n•Screening neurologic exam focused on muscle atrophy, strength, and sensory loss\n•Evaluation for neuropathic pain\n•Physical therapy evaluation, occupational therapy evaluation, including evaluation of activities of daily living\n•Foot examination for pressure sores or poorly fitting footwear.", "evidenceDomainTag": "Effectiveness of Intervention.Surveillances", "publication": [ "CG-AC:RF000321" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC063/tr/ACPM6707", "id": "CG-AC:AC063/tr/ACPM6707", "type": "TieredRecommendation", "evidenceSourceTier": "3", "recommendation": "Particular care must be taken in positioning during surgery (particularly knee surgery) to avoid nerve compression.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF000321" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC063/tr/ACPM6705", "id": "CG-AC:AC063/tr/ACPM6705", "type": "TieredRecommendation", "evidenceSourceTier": "4", "recommendation": "Protective pads at the elbows or knees may prevent pressure and trauma to local nerves. Management during a pressure palsy may include transient bracing and special shoes. If a pressure palsy is not transient but residual, the bracing may need to be permanent.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF000322", "CG-AC:RF000094", "CG-AC:RF000321" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC063/tr/ACPM6708", "id": "CG-AC:AC063/tr/ACPM6708", "type": "TieredRecommendation", "evidenceSourceTier": "4", "recommendation": "Consultation should be provided to the individual about physical activities that may trigger the sensory/motor deficits.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF000322", "CG-AC:RF000094" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC063/tr/ACPM6709", "id": "CG-AC:AC063/tr/ACPM6709", "type": "TieredRecommendation", "evidenceSourceTier": "4", "recommendation": "Electrophysiological examination (electromyography/nerve conduction velocity) is of great importance for diagnosis of HNPP. Nerve conduction studies reveal a characteristic pattern, even in clinically non-affected nerves or in asymptomatic at-risk individuals.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF000322", "CG-AC:RF000094", "CG-AC:RF000321", "CG-AC:RF003777" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC063/tr/ACPM6706", "id": "CG-AC:AC063/tr/ACPM6706", "type": "TieredRecommendation", "evidenceSourceTier": "4", "recommendation": "To establish the extent of disease following diagnosis the following evaluations are recommended: \n•Neurologic examination\n•Orthopedics, physical medicine and rehab, PT, OT evaluation\n•Clinical genetics consultation.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF000321" ] } ] }, "evidenceCategory": { "outcomeEvidenceItem": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC063/oei", "id": "CG-AC:AC063/oei", "type": "EvidenceItem", "natureOfTheThreat": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC063/oei/nott", "id": "CG-AC:AC063/oei/nott", "type": "EvidenceLine", "prevalenceOfTheGeneticDisorder": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC063/oei/pgd", "id": "CG-AC:AC063/oei/pgd", "type": "EvidenceItem", "keyText": "1-2 in 10000", "sourceOfPopulation": "General population", "evidenceNarrative": { "@id": "CG-AC:AC063/en/potgd" } }, "clinicalFeatures": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC063/oei/cf", "id": "CG-AC:AC063/oei/cf", "type": "EvidenceItem", "evidenceNarrative": { "@id": "CG-AC:AC063/en/cf" } }, "naturalHistory": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC063/oei/nh", "id": "CG-AC:AC063/oei/nh", "type": "EvidenceItem", "evidenceNarrative": { "@id": "CG-AC:AC063/en/nh" } } }, "threatMaterializationChances": { 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