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SETBP1
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‎notebooks/SETBP1/SETBP1_SGS_individuals.json‎

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{
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"cohortType": "mendelian",
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"diseaseList": [
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{
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"diseaseId": "OMIM:269150",
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"diseaseLabel": "Schinzel-Giedion midface retraction syndrome",
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"modeOfInheritanceList": [
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{
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"hpoId": "HP:0000006",
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"hpoLabel": "Autosomal dominant inheritance",
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"citation": "PMID:29333303"
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}
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],
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"geneTranscriptList": [
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{
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"hgncId": "HGNC:15573",
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"geneSymbol": "SETBP1",
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"transcript": "NM_015559.3"
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}
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]
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}
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],
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"hpoHeaders": [
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{
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"hpoLabel": "Depressed nasal bridge",
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"hpoId": "HP:0005280"
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},
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{
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"hpoLabel": "Narrow forehead",
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"hpoId": "HP:0000341"
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},
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{
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"hpoLabel": "Frontal bossing",
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"hpoId": "HP:0002007"
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},
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{
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"hpoLabel": "Coarse facial features",
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"hpoId": "HP:0000280"
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},
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{
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"hpoLabel": "Midface retrusion",
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"hpoId": "HP:0011800"
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},
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{
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"hpoLabel": "Wide anterior fontanel",
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"hpoId": "HP:0000260"
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},
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{
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"hpoLabel": "Diastasis recti",
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"hpoId": "HP:0001540"
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},
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{
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"hpoLabel": "Abdominal distention",
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"hpoId": "HP:0003270"
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},
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{
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"hpoLabel": "Dilated third ventricle",
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"hpoId": "HP:0007082"
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},
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{
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"hpoLabel": "Lateral ventricle dilatation",
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"hpoId": "HP:0006956"
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},
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{
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"hpoLabel": "Hydronephrosis",
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"hpoId": "HP:0000126"
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},
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{
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"hpoLabel": "Bowing of the long bones",
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"hpoId": "HP:0006487"
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},
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{
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"hpoLabel": "Broad ribs",
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"hpoId": "HP:0000885"
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},
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{
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"hpoLabel": "Seizure",
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"hpoId": "HP:0001250"
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},
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{
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"hpoLabel": "Severe hearing impairment",
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"hpoId": "HP:0012714"
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},
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{
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"hpoLabel": "Feeding difficulties",
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"hpoId": "HP:0011968"
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},
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{
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"hpoLabel": "Abnormal fundus morphology",
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"hpoId": "HP:0001098"
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},
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{
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"hpoLabel": "Severely reduced visual acuity",
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"hpoId": "HP:0001141"
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},
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{
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"hpoLabel": "Global developmental delay",
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"hpoId": "HP:0001263"
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},
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{
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"hpoLabel": "Patent ductus arteriosus after birth at term",
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"hpoId": "HP:0011648"
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},
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{
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"hpoLabel": "Patent foramen ovale",
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"hpoId": "HP:0001655"
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},
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{
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"hpoLabel": "Hypertelorism",
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"hpoId": "HP:0000316"
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},
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{
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"hpoLabel": "Postnatal growth retardation",
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"hpoId": "HP:0008897"
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},
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{
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"hpoLabel": "Low-set ears",
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"hpoId": "HP:0000369"
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},
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{
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"hpoLabel": "Talipes equinovarus",
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"hpoId": "HP:0001762"
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},
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{
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"hpoLabel": "Polyhydramnios",
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"hpoId": "HP:0001561"
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},
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{
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"hpoLabel": "Fetal pyelectasis",
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"hpoId": "HP:0010945"
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}
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],
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"rows": [
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{
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"individualData": {
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"pmid": "PMID:29333303",
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"title": "Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features",
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"individualId": "proposita",
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"comment": "na",
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"ageOfOnset": "Congenital onset",
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"ageAtLastEncounter": "P11M",
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"deceased": "yes",
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"sex": "F"
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},
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"diseaseIdList": [
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"OMIM:269150"
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],
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"alleleCountMap": {
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"c2608GtoA_SETBP1_NM_015559v3": 1
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},
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"hpoData": [
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{
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"type": "OnsetAge",
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"data": "Congenital onset"
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},
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{
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"type": "OnsetAge",
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"data": "Congenital onset"
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},
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{
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"type": "OnsetAge",
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"data": "Congenital onset"
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},
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{
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"type": "OnsetAge",
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"data": "Congenital onset"
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},
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{
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"type": "OnsetAge",
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"data": "Congenital onset"
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},
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{
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"type": "OnsetAge",
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"data": "Congenital onset"
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},
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{
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"type": "OnsetAge",
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"data": "Congenital onset"
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},
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{
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"type": "OnsetAge",
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"data": "Congenital onset"
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},
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{
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"type": "OnsetAge",
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"data": "Congenital onset"
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},
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{
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"type": "OnsetAge",
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"data": "Congenital onset"
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},
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{
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"type": "OnsetAge",
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"data": "Congenital onset"
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},
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{
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"type": "OnsetAge",
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"data": "Congenital onset"
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},
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{
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"type": "OnsetAge",
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"data": "Congenital onset"
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},
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{
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"type": "OnsetAge",
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"data": "P8M"
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},
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{
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"type": "OnsetAge",
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"data": "P8M"
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},
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{
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"type": "OnsetAge",
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"data": "P8M"
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},
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{
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"type": "Excluded"
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},
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{
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"type": "OnsetAge",
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"data": "P8M"
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},
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{
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"type": "OnsetAge",
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"data": "P8M"
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},
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{
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"type": "OnsetAge",
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"data": "Congenital onset"
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},
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{
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"type": "OnsetAge",
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"data": "Congenital onset"
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},
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{
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"type": "OnsetAge",
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"data": "Congenital onset"
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},
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{
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"type": "OnsetAge",
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"data": "P8M"
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},
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{
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"type": "OnsetAge",
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"data": "Congenital onset"
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},
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{
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"type": "OnsetAge",
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"data": "Congenital onset"
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},
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{
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"type": "OnsetAge",
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"data": "Antenatal onset"
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},
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{
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"type": "OnsetAge",
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"data": "Antenatal onset"
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}
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]
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}
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],
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"hgvsVariants": {
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"c2608GtoA_SETBP1_NM_015559v3": {
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"assembly": "hg38",
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"chr": "chr18",
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"position": 44951948,
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"refAllele": "G",
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"altAllele": "A",
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"symbol": "SETBP1",
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"hgncId": "HGNC:15573",
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"hgvs": "c.2608G>A",
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"transcript": "NM_015559.3",
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"gHgvs": "NC_000018.10:g.44951948G>A",
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"pHgvs": "NP_056374.2:p.(Gly870Ser)",
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"variantKey": "c2608GtoA_SETBP1_NM_015559v3"
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}
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},
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"structuralVariants": {},
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"phetoolsSchemaVersion": "0.2",
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"hpoVersion": "2025-11-24",
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"cohortAcronym": "SGS",
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"curationHistory": [
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{
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"orcid": "0000-0002-0736-9199",
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"date": "2025-01-09"
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}
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]
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}

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