{ "jsonMessageVersion" : "2.0.0", "statusPublishFlag" : "Publish", "type" : "actionability", "affiliations" : [ { "id" : "Pediatric AWG", "name" : "Pediatric Actionability Working Group" } ], "iri" : "https://10.15.55.128/ac/Pediatric/api/sepio/doc/AC001", "title" : "Retinoblastoma - RB1", "curationVersion" : "1.3.4", "curationType" : "Gene-Condition", "statusFlag" : "Released", "dateISO8601" : "2022-02-09T00:00:00-06:00", "releaseNotes" : "Internal system migration associated with MONDO name addition.", "surveyDetails" : "https://10.15.55.128/ac/ui/stg1RuleOutRpt?doc=AC001", "earlyRuleOutStatus" : "Complete", "scoreDetails" : "https://10.15.55.128/ac/Pediatric/ui/stg2SummaryRpt?doc=AC001", "genes" : [ { "symbol" : "RB1", "ontology" : "HGNC", "curie" : "HGNC:9884", "uri" : "HGNC9884" } ], "preferred_conditions" : [ { "ontology" : "MONDO", "curie" : "MONDO:0008380", "uri" : "MONDO0008380", "iri" : "http://purl.obolibrary.org/obo/MONDO_0008380", "gene" : "HGNC:9884" } ], "conditions" : [ { "ontology" : "MONDO", "curie" : "MONDO:0008380", "uri" : "MONDO0008380", "iri" : "http://purl.obolibrary.org/obo/MONDO_0008380", "gene" : "HGNC:9884" } ], "assertions" : [ { "ontology" : "MONDO", "curie" : "MONDO:0008380", "uri" : "MONDO0008380", "iri" : "http://purl.obolibrary.org/obo/MONDO_0008380", "gene" : "HGNC:9884", "assertion" : "Strong Actionability" } ], "scores" : [ { "Outcome" : "Morbidity or mortality from retinoblastoma", "ScoringGroups" : [ { "ScoringGroup" : [{"geneOmim":"614041","disOmim":"180200","gene":"RB1","preferredMondo":"0008380"}], "Severity" : "2", "Likelihood" : "3C", "Interventions" : [ { "Intervention" : "Surveillance", "ScoringGroups" : [ { "ScoringGroup" : [{"geneOmim":"614041","disOmim":"180200","gene":"RB1","preferredMondo":"0008380"}], "Effectiveness" : "3B", "Nature of Intervention" : "2", "Total" : "10CB" } ] } ] } ] }, { "Outcome" : "Morbidity or mortality from second extra-ocular malignant neoplasms", "ScoringGroups" : [ { "ScoringGroup" : [{"geneOmim":"614041","disOmim":"180200","gene":"RB1","preferredMondo":"0008380"}], "Severity" : "2", "Likelihood" : "2C", "Interventions" : [ { "Intervention" : "Surveillance", "ScoringGroups" : [ { "ScoringGroup" : [{"geneOmim":"614041","disOmim":"180200","gene":"RB1","preferredMondo":"0008380"}], "Effectiveness" : "2N", "Nature of Intervention" : "3", "Total" : "9CN" } ] } ] } ] } ], "assertions" : [ ], "searchDates" : [ "2018-04-30T00:00:00Z" ] }