{
  "url": "https://dantelabs.com/sv/genes/mnx1",
  "gene": {
    "slug": "mnx1",
    "symbol": "MNX1",
    "name": "motor neuron and pancreas homeobox 1",
    "hgnc": "HGNC:4979",
    "summary": null,
    "location": "7q36.3",
    "locusType": "gene with protein product",
    "aliases": [
      "HB9",
      "HOXHB9",
      "SCRA1"
    ],
    "previousSymbols": [
      "HLXB9"
    ],
    "ensemblId": "ENSG00000130675",
    "entrezId": 3110,
    "omim": [
      "142994"
    ],
    "uniprot": [
      "P50219"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "7",
      "start": 157004854,
      "end": 157010663,
      "strand": "-",
      "ensemblTranscript": "ENST00000252971.11",
      "refseqTranscript": "NM_005515.4",
      "ensemblProtein": "ENSP00000252971.5",
      "refseqProtein": "NP_005506.3",
      "exons": [
        {
          "start": 157004854,
          "end": 157005873
        },
        {
          "start": 157006479,
          "end": 157006639
        },
        {
          "start": 157009660,
          "end": 157010663
        }
      ],
      "cds": {
        "start": 157005520,
        "end": 157010350
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "7",
      "start": 156786745,
      "end": 156803345,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 156507759,
      "end": 157507758,
      "genes": [
        {
          "symbol": "RNF32",
          "ensemblId": "ENSG00000105982",
          "biotype": "protein_coding",
          "start": 156640281,
          "end": 156677780,
          "strand": "+",
          "slug": "rnf32"
        },
        {
          "symbol": "LMBR1",
          "ensemblId": "ENSG00000105983",
          "biotype": "protein_coding",
          "start": 156668946,
          "end": 156893225,
          "strand": "-",
          "slug": "lmbr1"
        },
        {
          "symbol": "NOM1",
          "ensemblId": "ENSG00000146909",
          "biotype": "protein_coding",
          "start": 156949706,
          "end": 156973176,
          "strand": "+",
          "slug": "nom1"
        },
        {
          "symbol": "UBE3C",
          "ensemblId": "ENSG00000009335",
          "biotype": "protein_coding",
          "start": 157138908,
          "end": 157269372,
          "strand": "+",
          "slug": "ube3c"
        },
        {
          "symbol": "DNAJB6",
          "ensemblId": "ENSG00000105993",
          "biotype": "protein_coding",
          "start": 157335381,
          "end": 157432974,
          "strand": "+",
          "slug": "dnajb6"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "diabetes-mellitus",
        "name": "Diabetes mellitus",
        "diseases": [
          {
            "mondoId": "MONDO:0005015",
            "name": "Diabetes mellitus",
            "genes": 31,
            "inheritance": null,
            "description": "En ämnesomsättningsrubbning som kännetecknas av onormalt höga blodsockernivåer på grund av minskad insulinproduktion eller insulinresistens/desensibilisering.",
            "management": "Teplizumab (Tzield) vid presymptomatisk typ 1-diabetes steg 2 (FDA-godkänd 2022); insulinersättning vid klinisk debut av typ 1-diabetes; TrialNet-screening för autoantikroppar hos släktingar med hög risk; slutna system för automatisk insulinleverans",
            "evidence": {
              "gencc": [
                "Genomics England PanelApp",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/diabetes-mellitus"
      },
      {
        "slug": "neonatal-diabetes-mellitus",
        "name": "Neonatal diabetes mellitus",
        "diseases": [
          {
            "mondoId": "MONDO:0016391",
            "name": "Neonatal diabetes mellitus",
            "genes": 20,
            "inheritance": null,
            "description": "Diabetes som upptäcks under de första månaderna av livet, antingen permanent eller övergående, orsakad av defekter i en enskild gen som påverkar insulinproduktion eller insulinutsöndring.",
            "management": "De flesta med neonatal diabetes orsakad av KCNJ11 eller ABCC8 kan byta från insulininjektioner till sulfonylureatabletter, ofta med bättre blodsockerkontroll.",
            "evidence": {
              "gencc": [
                "Genomics England PanelApp",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/neonatal-diabetes-mellitus"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-distention",
        "name": "Abdominal bloating",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abdominal-distention"
      },
      {
        "slug": "abdominal-cramps",
        "name": "Abdominal cramps",
        "systems": [
          "abnormality-of-the-digestive-system",
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abdominal-cramps"
      },
      {
        "slug": "rectovaginal-fistula",
        "name": "Abnormal connection between rectum and vagina",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/rectovaginal-fistula"
      },
      {
        "slug": "abnormal-intestine-morphology",
        "name": "Abnormality of the intestine",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-intestine-morphology"
      },
      {
        "slug": "absence-of-the-sacrum",
        "name": "Absence of the sacrum",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/absence-of-the-sacrum"
      },
      {
        "slug": "anal-atresia",
        "name": "Absent anus",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anal-atresia"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-sacrum",
        "name": "Absent/small sacrum",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-sacrum"
      },
      {
        "slug": "anal-fistula",
        "name": "Anal fistula",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anal-fistula"
      },
      {
        "slug": "vascular-dilatation",
        "name": "Aneurysm",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/vascular-dilatation"
      },
      {
        "slug": "anterior-sacral-meningocele",
        "name": "Anterior sacral meningocele",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anterior-sacral-meningocele"
      },
      {
        "slug": "bifid-sacrum",
        "name": "Bifid sacrum",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/bifid-sacrum"
      },
      {
        "slug": "chronic-constipation",
        "name": "Chronic constipation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chronic-constipation"
      },
      {
        "slug": "dermoid-cyst",
        "name": "Dermoid cyst",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dermoid-cyst"
      },
      {
        "slug": "septate-vagina",
        "name": "Double vagina",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/septate-vagina"
      },
      {
        "slug": "epidermoid-cyst",
        "name": "Epidermoid cyst",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/epidermoid-cyst"
      },
      {
        "slug": "recurrent-urinary-tract-infections",
        "name": "Frequent urinary tract infections",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/recurrent-urinary-tract-infections"
      },
      {
        "slug": "gastrointestinal-obstruction",
        "name": "Gastrointestinal obstruction",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/gastrointestinal-obstruction"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "bicornuate-uterus",
        "name": "Heart shaped uterus",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bicornuate-uterus"
      },
      {
        "slug": "hemisacrum",
        "name": "Hemisacrum",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hemisacrum"
      },
      {
        "slug": "horseshoe-kidney",
        "name": "Horseshoe kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/horseshoe-kidney"
      },
      {
        "slug": "sepsis",
        "name": "Infection in blood stream",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/sepsis"
      },
      {
        "slug": "neurogenic-bladder",
        "name": "Lack of bladder control due to nervous system injury",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neurogenic-bladder"
      },
      {
        "slug": "lower-limb-asymmetry",
        "name": "Left and right leg differ in length or width",
        "systems": [
          "abnormality-of-limbs",
          "growth-abnormality"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/lower-limb-asymmetry"
      },
      {
        "slug": "urinary-incontinence",
        "name": "Loss of bladder control",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "constitutional-symptom"
        ],
        "url": "https://dantelabs.com/traits/urinary-incontinence"
      },
      {
        "slug": "low-back-pain",
        "name": "Lumbago",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/low-back-pain"
      },
      {
        "slug": "meningitis",
        "name": "Meningitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/meningitis"
      },
      {
        "slug": "mesenteric-cyst",
        "name": "Mesenteric cyst",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mesenteric-cyst"
      },
      {
        "slug": "anal-stenosis",
        "name": "Narrowing of anal opening",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anal-stenosis"
      },
      {
        "slug": "pelvic-kidney",
        "name": "Pelvic kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pelvic-kidney"
      },
      {
        "slug": "perianal-abscess",
        "name": "Perianal abscess",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/perianal-abscess"
      },
      {
        "slug": "presacral-teratoma",
        "name": "Presacral teratoma",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-musculoskeletal-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/presacral-teratoma"
      },
      {
        "slug": "rectal-duplication",
        "name": "Rectal duplication",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/rectal-duplication"
      },
      {
        "slug": "sacral-lipoma",
        "name": "Sacral lipoma",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sacral-lipoma"
      },
      {
        "slug": "sacrococcygeal-teratoma",
        "name": "Sacrococcygeal teratoma",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-musculoskeletal-system",
          "neoplasm"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sacrococcygeal-teratoma"
      },
      {
        "slug": "sigmoid-kidney",
        "name": "Sigmoid kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sigmoid-kidney"
      },
      {
        "slug": "tethered-cord",
        "name": "Tethered cord",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tethered-cord"
      },
      {
        "slug": "hydrocephalus",
        "name": "Too much cerebrospinal fluid in the brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hydrocephalus"
      },
      {
        "slug": "vesicoureteral-reflux",
        "name": "Vesicoureteral reflux",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/vesicoureteral-reflux"
      }
    ],
    "related": [
      {
        "slug": "abcc8",
        "symbol": "ABCC8",
        "name": "ATP binding cassette subfamily C member 8",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/abcc8"
      },
      {
        "slug": "bscl2",
        "symbol": "BSCL2",
        "name": "BSCL2 lipid droplet biogenesis associated, seipin",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/bscl2"
      },
      {
        "slug": "eif2b1",
        "symbol": "EIF2B1",
        "name": "eukaryotic translation initiation factor 2B subunit alpha",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/eif2b1"
      },
      {
        "slug": "gata4",
        "symbol": "GATA4",
        "name": "GATA binding protein 4",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/gata4"
      },
      {
        "slug": "gata6",
        "symbol": "GATA6",
        "name": "GATA binding protein 6",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/gata6"
      },
      {
        "slug": "gck",
        "symbol": "GCK",
        "name": "glucokinase",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/gck"
      },
      {
        "slug": "glis3",
        "symbol": "GLIS3",
        "name": "GLIS family zinc finger 3",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/glis3"
      },
      {
        "slug": "hnf1b",
        "symbol": "HNF1B",
        "name": "HNF1 homeobox B",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/hnf1b"
      },
      {
        "slug": "il2ra",
        "symbol": "IL2RA",
        "name": "interleukin 2 receptor subunit alpha",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/il2ra"
      },
      {
        "slug": "ins",
        "symbol": "INS",
        "name": "insulin",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/ins"
      },
      {
        "slug": "kcnj11",
        "symbol": "KCNJ11",
        "name": "potassium inwardly rectifying channel subfamily J member 11",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/kcnj11"
      },
      {
        "slug": "neurod1",
        "symbol": "NEUROD1",
        "name": "neuronal differentiation 1",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/neurod1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}