RxOME QR Code GUI

{
    "id": "QR-Code ID",
    "comment": "useful remarks De do do do de da da da",
    "subject": {
        "id": "proband A",
        "dateOfBirth": "1994-01-01T00:00:00Z",
        "sex": "FEMALE"
    },
    "phenotypicFeatures": [
        {
        "type": {
            "id": "HP:0030084"
        }
        },
        {
        "type": {
            "id": "HP:0000555"
        }
        },
        {
        "type": {
            "id": "HP:0000486"
        }
        },
        {
        "type": {
            "id": "HP:0000541"
        }
        },
        {
        "type": {
            "id": "HP:0084369"
        }
        },
        {
        "type": {
            "id": "HP:0112358"
        }
        },
        {
        "type": {
            "id": "HP:0000145"
        }
        },
        {
        "type": {
            "id": "HP:1234567"
        }
        },
        {
        "type": {
            "id": "HP:9876543"
        }
        },
        {
        "type": {
            "id": "HP:5678912"
        }
        },
        {
        "type": {
            "id": "HP:0031360"
        },
        "excluded": true
        },
        {
        "type": {
            "id": "HP:0001234"
        },
        "excluded": true
        }
    ],
    "interpretations": [
        {
        "id": "interpretation.id",
        "progressStatus": "SOLVED",
        "diagnosis": {
            "disease": {
            "id": "OMIM:263750"
            },
            "genomicInterpretations": [
            {
                "variantInterpretation": {
                "acmgPathogenicityClassification": "PATHOGENIC",
                "variationDescriptor": {
                    "geneContext": {
                    "valueId": "HGNC:9884",
                    "symbol": "RB1"
                    },
                    "expressions": [
                    {
                        "syntax": "hgvs.c",
                        "value": "NM_000321.2:c.958C>T"
                    }
                    ],
                    "allelicState": {
                    "id": "GENO:0000135"
                    },
                    "extensions": [
                    {
                        "name": "test-type",
                        "value": "Exome, short read"
                    }
                    ]
                }
                }
            },
            {
                "variantInterpretation": {
                "acmgPathogenicityClassification": "LIKELY_PATHOGENIC",
                "variationDescriptor": {
                    "geneContext": {
                    "valueId": "HGNC:9884",
                    "symbol": "RB1"
                    },
                    "expressions": [
                    {
                        "syntax": "hgvs.c",
                        "value": "NM_000321.2:c.1234A>G"
                    }
                    ],
                    "allelicState": {
                    "label": "heterozygous"
                    },
                    "extensions": [
                    {
                        "name": "test-type",
                        "value": "Exome, short read"
                    }
                    ]
                }
                }
            }
            ]
        }
        }
    ],
    "metaData": {
        "created": "2021-05-14T10:35:00Z",
        "createdBy": "mgz",
        "submittedBy": "a_clinician@mgz-muenchen.de",
        "phenopacketSchemaVersion": "2.0",
        "pseudonym": "_DEMO_PSEUDONYM_"
    },
    "credentials": {
        "key": "lBSkSxe/+UBWOeF5OJdQgf9qZhiI85hYE6yJCuWjCNk=",
        "keyId": "rxome",
        "user": "a_clinician@mgz-muenchen.de"
    }
}