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‎notebooks/B3GALT6/phenopackets/PMID_23664117_family_F10_subject_P12.json‎

Lines changed: 44 additions & 3 deletions
Original file line numberDiff line numberDiff line change
@@ -203,7 +203,7 @@
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],
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"interpretations": [
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{
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"id": "PVj677Fvxzf9DoGQi58rWJAH",
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"id": "qYnC19w9uSJ5QMcmmhnpQ0Av",
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"progressStatus": "SOLVED",
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"diagnosis": {
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"disease": {
@@ -251,6 +251,47 @@
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}
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}
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}
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},
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{
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"subjectOrBiosampleId": "family F10 subject P12",
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"interpretationStatus": "CAUSATIVE",
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"variantInterpretation": {
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"acmgPathogenicityClassification": "PATHOGENIC",
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"therapeuticActionability": "UNKNOWN_ACTIONABILITY",
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"variationDescriptor": {
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"id": "c16CtoT_B3GALT6_NM_080605v4",
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"geneContext": {
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"valueId": "HGNC:17978",
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"symbol": "B3GALT6"
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},
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"expressions": [
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{
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"syntax": "hgvs.c",
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"value": "NM_080605.4:c.16C>T"
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},
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{
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"syntax": "hgvs.g",
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"value": "NC_000001.11:g.1232294C>T"
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{
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"syntax": "hgvs.p",
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"value": "NP_542172.2:p.(Arg6Trp)"
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"chrom": "chr1",
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"pos": 1232294,
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"alt": "T"
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},
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"moleculeContext": "genomic",
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"allelicState": {
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"id": "GENO:0000135",
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"label": "heterozygous"
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}
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}
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}
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}
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]
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}
@@ -265,14 +306,14 @@
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}
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],
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"metaData": {
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"created": "2025-10-13T11:06:51.679794Z",
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"created": "2026-01-02T08:24:56.483508Z",
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"createdBy": "0000-0002-0736-9199",
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{
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"name": "human phenotype ontology",
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"version": "2025-08-11",
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"namespacePrefix": "HP",
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},

‎notebooks/B3GALT6/phenopackets/PMID_23664117_family_F1_subject_P1.json‎

Lines changed: 44 additions & 3 deletions
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@@ -109,14 +109,55 @@
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],
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"interpretations": [
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{
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"id": "46nxP4TW3jkVjXQHvX23zSIq",
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"progressStatus": "SOLVED",
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"diagnosis": {
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"disease": {
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"id": "OMIM:271640",
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"label": "Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures"
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},
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"genomicInterpretations": [
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{
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"subjectOrBiosampleId": "family F1 subject P1",
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"acmgPathogenicityClassification": "PATHOGENIC",
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"therapeuticActionability": "UNKNOWN_ACTIONABILITY",
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"variationDescriptor": {
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"id": "c1AtoG_B3GALT6_NM_080605v4",
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"geneContext": {
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"valueId": "HGNC:17978",
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"symbol": "B3GALT6"
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},
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"expressions": [
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{
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"syntax": "hgvs.c",
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"value": "NM_080605.4:c.1A>G"
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{
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"value": "NC_000001.11:g.1232279A>G"
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{
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"syntax": "hgvs.p",
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"value": "NP_542172.2:p.(Met1?)"
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}
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"pos": 1232279,
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"ref": "A",
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},
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"moleculeContext": "genomic",
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"allelicState": {
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"id": "GENO:0000135",
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"label": "heterozygous"
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}
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}
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},
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{
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"subjectOrBiosampleId": "family F1 subject P1",
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"interpretationStatus": "CAUSATIVE",
@@ -171,14 +212,14 @@
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}
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"metaData": {
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"resources": [
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{
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"url": "http://purl.obolibrary.org/obo/hp.owl",
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"version": "2025-08-11",
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"namespacePrefix": "HP",
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"iriPrefix": "http://purl.obolibrary.org/obo/HP_"
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},

‎notebooks/B3GALT6/phenopackets/PMID_23664117_family_F1_subject_P2.json‎

Lines changed: 44 additions & 3 deletions
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@@ -89,14 +89,55 @@
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],
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"interpretations": [
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{
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"id": "aQGZVcmkDdTxjZ37yg0GFk4y",
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"id": "oglSFCIPnR5HB8nwrW3IxJ9o",
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"progressStatus": "SOLVED",
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"diagnosis": {
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"disease": {
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"id": "OMIM:271640",
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"label": "Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures"
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},
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"genomicInterpretations": [
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{
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"subjectOrBiosampleId": "family F1 subject P2",
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"interpretationStatus": "CAUSATIVE",
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"variantInterpretation": {
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"acmgPathogenicityClassification": "PATHOGENIC",
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"therapeuticActionability": "UNKNOWN_ACTIONABILITY",
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"variationDescriptor": {
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"id": "c1AtoG_B3GALT6_NM_080605v4",
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"geneContext": {
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"valueId": "HGNC:17978",
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"symbol": "B3GALT6"
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},
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"expressions": [
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{
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"syntax": "hgvs.c",
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"value": "NM_080605.4:c.1A>G"
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},
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{
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"syntax": "hgvs.g",
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"value": "NC_000001.11:g.1232279A>G"
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},
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{
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"syntax": "hgvs.p",
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"value": "NP_542172.2:p.(Met1?)"
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}
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],
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"vcfRecord": {
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"chrom": "chr1",
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"pos": 1232279,
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"ref": "A",
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"alt": "G"
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},
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"moleculeContext": "genomic",
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"allelicState": {
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"id": "GENO:0000135",
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"label": "heterozygous"
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}
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}
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}
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},
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{
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"subjectOrBiosampleId": "family F1 subject P2",
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"interpretationStatus": "CAUSATIVE",
@@ -151,14 +192,14 @@
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}
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],
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"metaData": {
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"created": "2025-10-13T11:08:24.571402Z",
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"created": "2026-01-02T08:25:16.219506Z",
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"createdBy": "0000-0002-0736-9199",
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"resources": [
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{
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"id": "hp",
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"name": "human phenotype ontology",
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"url": "http://purl.obolibrary.org/obo/hp.owl",
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"version": "2025-08-11",
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"version": "2025-11-24",
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},

‎notebooks/B3GALT6/phenopackets/PMID_23664117_family_F2_subject_P3.json‎

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@@ -201,7 +201,7 @@
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],
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"interpretations": [
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{
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"id": "pkrA5rAoSlga4xhzxYgoqbHH",
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"id": "0uNKvq5LuShcMDRrARA2y9xk",
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"progressStatus": "SOLVED",
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"diagnosis": {
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"disease": {
@@ -249,6 +249,47 @@
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}
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}
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}
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},
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{
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"subjectOrBiosampleId": "family F2 subject P3",
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"interpretationStatus": "CAUSATIVE",
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"variantInterpretation": {
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"acmgPathogenicityClassification": "PATHOGENIC",
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"therapeuticActionability": "UNKNOWN_ACTIONABILITY",
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"variationDescriptor": {
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"id": "c466GtoA_B3GALT6_NM_080605v4",
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"geneContext": {
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"valueId": "HGNC:17978",
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"symbol": "B3GALT6"
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},
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"expressions": [
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{
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"syntax": "hgvs.c",
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"value": "NM_080605.4:c.466G>A"
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},
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{
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"syntax": "hgvs.g",
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"value": "NC_000001.11:g.1232744G>A"
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},
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{
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"syntax": "hgvs.p",
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"value": "NP_542172.2:p.(Asp156Asn)"
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}
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],
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"vcfRecord": {
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"genomeAssembly": "hg38",
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"chrom": "chr1",
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"pos": 1232744,
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"ref": "G",
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"alt": "A"
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},
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"moleculeContext": "genomic",
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"allelicState": {
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"id": "GENO:0000135",
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"label": "heterozygous"
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}
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}
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}
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}
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]
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}
@@ -263,14 +304,14 @@
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}
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],
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"metaData": {
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"created": "2025-10-13T11:08:24.571628Z",
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"created": "2026-01-02T08:25:16.219562Z",
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"createdBy": "0000-0002-0736-9199",
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"resources": [
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{
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"id": "hp",
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"name": "human phenotype ontology",
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"url": "http://purl.obolibrary.org/obo/hp.owl",
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"version": "2025-08-11",
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"version": "2025-11-24",
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"namespacePrefix": "HP",
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"iriPrefix": "http://purl.obolibrary.org/obo/HP_"
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},

‎notebooks/B3GALT6/phenopackets/PMID_23664117_family_F4_subject_P5.json‎

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@@ -206,14 +206,55 @@
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],
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"interpretations": [
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{
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"id": "QAscSZS1FlxbXR55Arphw9AD",
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"id": "RL3n3QTEGzY7tOd4R0uQ9MQH",
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"progressStatus": "SOLVED",
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"diagnosis": {
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"disease": {
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"id": "OMIM:271640",
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"label": "Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures"
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},
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"genomicInterpretations": [
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{
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"subjectOrBiosampleId": "family F4 subject P5",
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"interpretationStatus": "CAUSATIVE",
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"variantInterpretation": {
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"acmgPathogenicityClassification": "PATHOGENIC",
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"therapeuticActionability": "UNKNOWN_ACTIONABILITY",
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"variationDescriptor": {
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"id": "c1AtoG_B3GALT6_NM_080605v4",
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"geneContext": {
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"valueId": "HGNC:17978",
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"symbol": "B3GALT6"
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},
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"expressions": [
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{
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"syntax": "hgvs.c",
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"value": "NM_080605.4:c.1A>G"
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},
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{
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"syntax": "hgvs.g",
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"value": "NC_000001.11:g.1232279A>G"
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},
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{
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"syntax": "hgvs.p",
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"value": "NP_542172.2:p.(Met1?)"
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}
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],
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"vcfRecord": {
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"genomeAssembly": "hg38",
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"chrom": "chr1",
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"pos": 1232279,
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"ref": "A",
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"alt": "G"
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},
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"moleculeContext": "genomic",
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"allelicState": {
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"id": "GENO:0000135",
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"label": "heterozygous"
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}
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}
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}
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},
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{
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"subjectOrBiosampleId": "family F4 subject P5",
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"interpretationStatus": "CAUSATIVE",
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}
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],
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"metaData": {
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"created": "2025-10-13T11:08:24.571894Z",
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"created": "2026-01-02T08:25:16.219604Z",
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"createdBy": "0000-0002-0736-9199",
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"resources": [
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{
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"id": "hp",
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"name": "human phenotype ontology",
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"url": "http://purl.obolibrary.org/obo/hp.owl",
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"version": "2025-08-11",
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"version": "2025-11-24",
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"namespacePrefix": "HP",
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"iriPrefix": "http://purl.obolibrary.org/obo/HP_"
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},

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