SPRED1

Author: pnrobinson

notebooks/SPRED1/SPRED1_LGSS_individuals.ipynb

@@ -0,0 +1,115 @@
+{
+  "cohortType": "mendelian",
+  "diseaseList": [
+    {
+      "diseaseId": "OMIM:611431",
+      "diseaseLabel": "Legius syndrome",
+      "modeOfInheritanceList": [
+        {
+          "hpoId": "HP:0000006",
+          "hpoLabel": "Autosomal dominant inheritance",
+          "citation": "PMID:28150585"
+        }
+      ],
+      "geneTranscriptList": [
+        {
+          "hgncId": "HGNC:20249",
+          "geneSymbol": "SPRED1",
+          "transcript": "NM_152594.3"
+        }
+      ]
+    }
+  ],
+  "hpoHeaders": [
+    {
+      "hpoLabel": "Macrocephaly",
+      "hpoId": "HP:0000256"
+    },
+    {
+      "hpoLabel": "Multiple lipomas",
+      "hpoId": "HP:0001012"
+    },
+    {
+      "hpoLabel": "Axillary freckling",
+      "hpoId": "HP:0000997"
+    },
+    {
+      "hpoLabel": "Multiple cafe-au-lait spots",
+      "hpoId": "HP:0007565"
+    },
+    {
+      "hpoLabel": "Specific learning disability",
+      "hpoId": "HP:0001328"
+    },
+    {
+      "hpoLabel": "Delayed speech and language development",
+      "hpoId": "HP:0000750"
+    }
+  ],
+  "rows": [
+    {
+      "individualData": {
+        "pmid": "PMID:28150585",
+        "title": "The first Slovak Legius syndrome patient carrying the SPRED1 gene mutation",
+        "individualId": "patient P62",
+        "comment": "na",
+        "ageOfOnset": "na",
+        "ageAtLastEncounter": "na",
+        "deceased": "no",
+        "sex": "M"
+      },
+      "diseaseIdList": [
+        "OMIM:611431"
+      ],
+      "alleleCountMap": {
+        "c46CtoT_SPRED1_NM_152594v3": 1
+      },
+      "hpoData": [
+        {
+          "type": "Excluded"
+        },
+        {
+          "type": "Excluded"
+        },
+        {
+          "type": "Excluded"
+        },
+        {
+          "type": "Observed"
+        },
+        {
+          "type": "Observed"
+        },
+        {
+          "type": "Excluded"
+        }
+      ]
+    }
+  ],
+  "hgvsVariants": {
+    "c46CtoT_SPRED1_NM_152594v3": {
+      "assembly": "hg38",
+      "chr": "chr15",
+      "position": 38299386,
+      "refAllele": "C",
+      "altAllele": "T",
+      "symbol": "SPRED1",
+      "hgncId": "HGNC:20249",
+      "hgvs": "c.46C>T",
+      "transcript": "NM_152594.3",
+      "gHgvs": "NC_000015.10:g.38299386C>T",
+      "pHgvs": "NP_689807.1:p.(Arg16Ter)",
+      "variantKey": "c46CtoT_SPRED1_NM_152594v3"
+    }
+  },
+  "structuralVariants": {},
+  "phetoolsSchemaVersion": "0.2",
+  "hpoVersion": "2025-11-24",
+  "cohortAcronym": "LGSS",
+  "curationHistory": [
+    {
+      "orcid": "0000-0002-0736-9199",
+      "date": "2025-01-09"
+    }
+  ]
+}