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  1. PhenoTips
  2. PT-3141

Suggested gene panels in UI differ from curl REST call

    Details

    • Type: Bug
    • Status: Closed
    • Priority: Medium
    • Resolution: Fixed
    • Affects Version/s: None
    • Fix Version/s: 1.3-rc-2
    • Component/s: None
    • Labels:
      None

      Description

      For the patient record (see JSON below) gene panel suggestions show more genes.

      {
      	"allergies": ["NKDA"],
      	"date": "2017-03-20T14:47:29.000Z",
      	"apgar": {},
      	"notes": {
      		"family_history": "",
      		"prenatal_development": "",
      		"indication_for_referral": "",
      		"genetic_notes": "",
      		"medical_history": "",
      		"diagnosis_notes": "referred to gynecological surgeon to discuss option of TAHBSO"
      	},
      	"ethnicity": {
      		"maternal_ethnicity": ["Polish"],
      		"paternal_ethnicity": ["German"]
      	},
      	"date_of_birth": {
      		"month": 10,
      		"year": 1974,
      		"day": 4
      	},
      	"global_mode_of_inheritance": [{
      		"id": "HP:0000006",
      		"label": "Autosomal dominant inheritance"
      	}],
      	"solved": {
      		"status": "solved"
      	},
      	"external_id": "849365",
      	"variants": [{
      		"start_position": "43124030",
      		"evidence": ["rare", "predicted", "reported"],
      		"gene": "ENSG00000012048",
      		"chromosome": "17",
      		"inheritance": "paternal",
      		"end_position": "43124031",
      		"transcript": "NM_007294.3",
      		"sanger": "positive",
      		"zygosity": "heterozygous",
      		"interpretation": "pathogenic",
      		"reference_genome": "GRCh38",
      		"protein": "p.Glu23Valfs",
      		"effect": "deletion_frameshift",
      		"dbsnp": "rs386833395",
      		"cdna": "c.68_69delAG",
      		"segregation": "segregates"
      	}],
      	"clinicalStatus": "affected",
      	"disorders": [{
      		"id": "MIM:604370",
      		"label": "BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1"
      	}],
      	"features": [{
      		"id": "HP:0000256",
      		"label": "Macrocephaly",
      		"type": "phenotype",
      		"observed": "no"
      	}, {
      		"id": "HP:0000717",
      		"label": "Autism",
      		"type": "phenotype",
      		"observed": "no"
      	}],
      	"date_of_death": {},
      	"contact": [{
      		"institution": "http://phenotips.org/",
      		"name": "Administrator",
      		"id": "xwiki:XWiki.Admin",
      		"email": "support@phenotips.org"
      	}],
      	"last_modification_date": "2017-03-20T14:47:31.000Z",
      	"patient_name": {
      		"last_name": "Barr",
      		"first_name": "Sharon"
      	},
      	"specificity": {
      		"date": "2017-03-20T14:57:02.340Z",
      		"score": 0.4020703333333333,
      		"server": "monarchinitiative.org"
      	},
      	"nonstandard_features": [],
      	"id": "P0000001",
      	"prenatal_perinatal_history": {
      		"multipleGestation": null,
      		"icsi": null,
      		"maternal_age": 0,
      		"paternal_age": 0,
      		"ivf": null,
      		"assistedReproduction_donoregg": null,
      		"assistedReproduction_iui": null,
      		"twinNumber": "",
      		"assistedReproduction_fertilityMeds": null,
      		"gestation": null,
      		"assistedReproduction_surrogacy": null,
      		"assistedReproduction_donorsperm": null
      	},
      	"family_history": {
      		"miscarriages": false,
      		"consanguinity": false,
      		"affectedRelatives": null
      	},
      	"genes": [{
      		"gene": "BRCA1",
      		"id": "ENSG00000012048",
      		"status": "solved"
      	}],
      	"life_status": "alive",
      	"sex": "F",
      	"clinical-diagnosis": [],
      	"reporter": "Admin",
      	"last_modified_by": "Admin",
      	"global_age_of_onset": [{
      		"id": "HP:0011462",
      		"label": "Young adult onset"
      	}],
      	"report_id": "P0000001",
      	"meta": {
      		"hgnc_version": "2017-02-11T22:12:02.225Z",
      		"omim_version": "2017-03-14T05:02:32.259Z",
      		"hpo_version": "releases/2017-03-09",
      		"orphanet_version": "2.3",
      		"phenotips_version": "1.3-rc-1"
      	}
      }
      

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            • Assignee:
              alina Alina Gvozdik
              Reporter:
              sasha Sasha Andjic
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              Dates

              • Created:
                Updated:
                Resolved: