{
  "url": "https://dantelabs.com/nl/genes/max",
  "gene": {
    "slug": "max",
    "symbol": "MAX",
    "name": "MYC associated transcriptional regulator X",
    "hgnc": "HGNC:6913",
    "summary": null,
    "location": "14q23.3",
    "locusType": "gene with protein product",
    "aliases": [
      "bHLHd4",
      "bHLHd5",
      "bHLHd6",
      "bHLHd7",
      "bHLHd8"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000125952",
    "entrezId": 4149,
    "omim": [
      "154950"
    ],
    "uniprot": [
      "P61244"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "14",
      "start": 65075127,
      "end": 65102517,
      "strand": "-",
      "ensemblTranscript": "ENST00000358664.9",
      "refseqTranscript": "NM_002382.5",
      "ensemblProtein": "ENSP00000351490.4",
      "refseqProtein": "NP_002373.3",
      "exons": [
        {
          "start": 65075127,
          "end": 65076663
        },
        {
          "start": 65077913,
          "end": 65078036
        },
        {
          "start": 65093708,
          "end": 65093815
        },
        {
          "start": 65101546,
          "end": 65101572
        },
        {
          "start": 65102304,
          "end": 65102517
        }
      ],
      "cds": {
        "start": 65076476,
        "end": 65102339
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "14",
      "start": 65472892,
      "end": 65569413,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 64588822,
      "end": 65588821,
      "genes": [
        {
          "symbol": "PPP1R36",
          "ensemblId": "ENSG00000165807",
          "biotype": "protein_coding",
          "start": 64549890,
          "end": 64590096,
          "strand": "+",
          "slug": "ppp1r36"
        },
        {
          "symbol": "PLEKHG3",
          "ensemblId": "ENSG00000126822",
          "biotype": "protein_coding",
          "start": 64704102,
          "end": 64750249,
          "strand": "+",
          "slug": "plekhg3"
        },
        {
          "symbol": "SPTB",
          "ensemblId": "ENSG00000070182",
          "biotype": "protein_coding",
          "start": 64746283,
          "end": 64880019,
          "strand": "-",
          "slug": "sptb"
        },
        {
          "symbol": "CHURC1",
          "ensemblId": "ENSG00000258289",
          "biotype": "protein_coding",
          "start": 64914361,
          "end": 64957314,
          "strand": "+",
          "slug": "churc1"
        },
        {
          "symbol": "CHURC1-FNTB",
          "ensemblId": "ENSG00000125954",
          "biotype": "protein_coding",
          "start": 64914485,
          "end": 65061803,
          "strand": "+",
          "slug": "churc1-fntb"
        },
        {
          "symbol": "GPX2",
          "ensemblId": "ENSG00000176153",
          "biotype": "protein_coding",
          "start": 64939152,
          "end": 64942746,
          "strand": "-",
          "slug": "gpx2"
        },
        {
          "symbol": "RAB15",
          "ensemblId": "ENSG00000139998",
          "biotype": "protein_coding",
          "start": 64945814,
          "end": 64973226,
          "strand": "-",
          "slug": "rab15"
        },
        {
          "symbol": "FNTB",
          "ensemblId": "ENSG00000257365",
          "biotype": "protein_coding",
          "start": 64986837,
          "end": 65062658,
          "strand": "+",
          "slug": "fntb"
        },
        {
          "symbol": "FUT8",
          "ensemblId": "ENSG00000033170",
          "biotype": "protein_coding",
          "start": 65285127,
          "end": 65747182,
          "strand": "+",
          "slug": "fut8"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-pheochromocytoma-paraganglioma",
        "name": "Erfelijke feochromocytoom en paraganglioom",
        "diseases": [
          {
            "mondoId": "MONDO:0008233",
            "name": "Erfelijk feochromocytoom",
            "genes": 6,
            "inheritance": "autosomal-dominant",
            "description": "Erfelijke aanleg voor catecholamine-producerende tumoren van het bijniermerg.",
            "management": "Biochemische screening en beeldvorming maken het mogelijk tumoren vroeg op te sporen en te verwijderen.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": true,
              "inheritance": [
                "autosomal-dominant"
              ],
              "actionability": 11
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0017366",
            "name": "Erfelijk feochromocytoom-paraganglioom",
            "genes": 7,
            "inheritance": "autosomal-dominant",
            "description": "Een groep syndromen (PPGL-types 1-7, gerelateerd aan TMEM127 en MAX) waarbij varianten in SDHB, SDHD, SDHC, SDHA, SDHAF2, MAX of TMEM127 het risico op feochromocytoom en paraganglioom verhogen.",
            "management": "Regelmatig onderzoek van metanefrines in bloed of urine en periodieke MRI van het hele lichaam helpen tumoren vroeg op te sporen, voordat ze tot bloeddrukcrises leiden. Familieleden kunnen worden aangeboden zich te laten testen.",
            "evidence": {
              "gencc": [
                "ClinGen"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/hereditary-pheochromocytoma-paraganglioma"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-mass",
        "name": "Abdominal mass",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abdominal-mass"
      },
      {
        "slug": "neoplasm",
        "name": "Abnormal tissue mass",
        "systems": [],
        "url": "https://dantelabs.com/traits/neoplasm"
      },
      {
        "slug": "microphthalmia",
        "name": "Abnormally small eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/microphthalmia"
      },
      {
        "slug": "aniridia",
        "name": "Absent iris",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/aniridia"
      },
      {
        "slug": "renal-agenesis",
        "name": "Absent kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renal-agenesis"
      },
      {
        "slug": "adrenal-pheochromocytoma",
        "name": "Adrenal pheochromocytoma",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/adrenal-pheochromocytoma"
      },
      {
        "slug": "atrial-septal-defect",
        "name": "An opening in the wall separating the top two chambers of the heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/atrial-septal-defect"
      },
      {
        "slug": "arachnoid-hemangiomatosis",
        "name": "Arachnoid hemangiomatosis",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/arachnoid-hemangiomatosis"
      },
      {
        "slug": "autistic-behavior",
        "name": "Autism spectrum disorder",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/autistic-behavior"
      },
      {
        "slug": "macrocephaly",
        "name": "Big calvaria",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/macrocephaly"
      },
      {
        "slug": "chorioretinal-coloboma",
        "name": "Birth defect that causes a hole in the innermost layer at the back of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chorioretinal-coloboma"
      },
      {
        "slug": "cafe-au-lait-spot",
        "name": "Birthmark",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/cafe-au-lait-spot"
      },
      {
        "slug": "cerebral-hemorrhage",
        "name": "Bleeding in brain",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebral-hemorrhage"
      },
      {
        "slug": "hematuria",
        "name": "Blood in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hematuria"
      },
      {
        "slug": "renal-cell-carcinoma",
        "name": "Cancer starting in small tubes in kidneys",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/renal-cell-carcinoma"
      },
      {
        "slug": "congestive-heart-failure",
        "name": "Cardiac failure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/congestive-heart-failure"
      },
      {
        "slug": "chest-pain",
        "name": "Chest pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chest-pain"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "developmental-cataract",
        "name": "Clouding of the lens of the eye at birth",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/developmental-cataract"
      },
      {
        "slug": "conductive-hearing-impairment",
        "name": "Conductive deafness",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/conductive-hearing-impairment"
      },
      {
        "slug": "constipation",
        "name": "Constipation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/constipation"
      },
      {
        "slug": "cranial-nerve-compression",
        "name": "Cranial nerve compression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cranial-nerve-compression"
      },
      {
        "slug": "orthostatic-hypotension",
        "name": "Decrease in blood pressure upon standing up",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/orthostatic-hypotension"
      },
      {
        "slug": "cardiomyopathy",
        "name": "Disease of the heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cardiomyopathy"
      },
      {
        "slug": "elevated-circulating-calcitonin-concentration",
        "name": "Elevated calcitonin",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-circulating-calcitonin-concentration"
      },
      {
        "slug": "tachycardia",
        "name": "Elevated heart rate",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/tachycardia"
      },
      {
        "slug": "elevated-urinary-dopamine-level",
        "name": "Elevated urinary dopamine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-urinary-dopamine-level"
      },
      {
        "slug": "elevated-urinary-epinephrine-level",
        "name": "Elevated urinary epinephrine level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-urinary-epinephrine-level"
      },
      {
        "slug": "elevated-urinary-norepinephrine-level",
        "name": "Elevated urinary norepinephrine level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-urinary-norepinephrine-level"
      },
      {
        "slug": "episodic-paroxysmal-anxiety",
        "name": "Episodic paroxysmal anxiety",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/episodic-paroxysmal-anxiety"
      },
      {
        "slug": "hyperhidrosis",
        "name": "Excessive sweating",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/hyperhidrosis"
      },
      {
        "slug": "postaxial-hand-polydactyly",
        "name": "Extra little finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/postaxial-hand-polydactyly"
      },
      {
        "slug": "postaxial-foot-polydactyly",
        "name": "Extra toe attached near the little toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/postaxial-foot-polydactyly"
      },
      {
        "slug": "extraadrenal-pheochromocytoma",
        "name": "Extraadrenal pheochromocytoma",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/extraadrenal-pheochromocytoma"
      },
      {
        "slug": "syncope",
        "name": "Fainting spell",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/syncope"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "flushing",
        "name": "Flushing",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/flushing"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "glomerular-sclerosis",
        "name": "Glomerular sclerosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/glomerular-sclerosis"
      },
      {
        "slug": "hypercalcemia",
        "name": "High blood calcium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypercalcemia"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "hyperglycemia",
        "name": "High blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperglycemia"
      },
      {
        "slug": "proteinuria",
        "name": "High urine protein levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/proteinuria"
      },
      {
        "slug": "hypertension-associated-with-pheochromocytoma",
        "name": "Hypertension associated with pheochromocytoma",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertension-associated-with-pheochromocytoma"
      },
      {
        "slug": "hypertensive-crisis",
        "name": "Hypertensive crisis",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertensive-crisis"
      },
      {
        "slug": "hypertensive-retinopathy",
        "name": "Hypertensive retinopathy",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertensive-retinopathy"
      },
      {
        "slug": "hypospadias",
        "name": "Hypospadias",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypospadias"
      },
      {
        "slug": "vocal-cord-paralysis",
        "name": "Inability to move vocal cords",
        "systems": [
          "abnormality-of-the-nervous-system",
          "abnormality-of-the-voice"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/vocal-cord-paralysis"
      },
      {
        "slug": "dysphonia",
        "name": "Inability to produce voice sounds",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysphonia"
      },
      {
        "slug": "myocarditis",
        "name": "Inflammation of heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myocarditis"
      },
      {
        "slug": "episodic-abdominal-pain",
        "name": "Intermittent abdominal pain",
        "systems": [
          "abnormality-of-the-digestive-system",
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/episodic-abdominal-pain"
      },
      {
        "slug": "episodic-hypertension",
        "name": "Intermittent high blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/episodic-hypertension"
      },
      {
        "slug": "renal-artery-stenosis",
        "name": "Narrowing of kidney artery",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/renal-artery-stenosis"
      },
      {
        "slug": "nausea",
        "name": "Nausea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nausea"
      },
      {
        "slug": "single-umbilical-artery",
        "name": "Only one artery in umbilical cord instead of two",
        "systems": [
          "abnormality-of-prenatal-development-or-birth",
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/single-umbilical-artery"
      },
      {
        "slug": "pallor",
        "name": "Paleness",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pallor"
      },
      {
        "slug": "palpitations",
        "name": "Palpitations",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/palpitations"
      },
      {
        "slug": "panic-attack",
        "name": "Panic attack",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/panic-attack"
      },
      {
        "slug": "paraganglioma",
        "name": "Paraganglioma",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/paraganglioma"
      },
      {
        "slug": "paraganglioma-of-head-and-neck",
        "name": "Paraganglioma of head and neck",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/paraganglioma-of-head-and-neck"
      },
      {
        "slug": "paroxysmal-vertigo",
        "name": "Paroxysmal vertigo",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/paroxysmal-vertigo"
      },
      {
        "slug": "patent-foramen-ovale",
        "name": "Patent foramen ovale",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/patent-foramen-ovale"
      },
      {
        "slug": "perianal-abscess",
        "name": "Perianal abscess",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/perianal-abscess"
      },
      {
        "slug": "pheochromocytoma",
        "name": "Pheochromocytoma",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/pheochromocytoma"
      },
      {
        "slug": "pectus-carinatum",
        "name": "Pigeon chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pectus-carinatum"
      },
      {
        "slug": "positive-regitine-blocking-test",
        "name": "Positive regitine blocking test",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/positive-regitine-blocking-test"
      },
      {
        "slug": "pulsatile-tinnitus",
        "name": "Pulsatile tinnitus",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pulsatile-tinnitus"
      },
      {
        "slug": "recurrent-paroxysmal-headache",
        "name": "Recurrent paroxysmal headache",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-paroxysmal-headache"
      },
      {
        "slug": "renal-insufficiency",
        "name": "Renal failure",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/renal-insufficiency"
      },
      {
        "slug": "retinal-capillary-hemangioma",
        "name": "Retinal capillary hemangioma",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/retinal-capillary-hemangioma"
      },
      {
        "slug": "serous-retinal-detachment",
        "name": "Serous retinal detachment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/serous-retinal-detachment"
      },
      {
        "slug": "sinus-tachycardia",
        "name": "Sinus tachycardia",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sinus-tachycardia"
      },
      {
        "slug": "episodic-hyperhidrosis",
        "name": "Sporadic excessive sweating",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/episodic-hyperhidrosis"
      },
      {
        "slug": "hemangioma",
        "name": "Strawberry mark",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/hemangioma"
      },
      {
        "slug": "thoracic-platyspondyly",
        "name": "Thoracic platyspondyly",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thoracic-platyspondyly"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tremor"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      },
      {
        "slug": "weight-loss",
        "name": "Weight loss",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/weight-loss"
      }
    ],
    "related": [
      {
        "slug": "sdhb",
        "symbol": "SDHB",
        "name": "succinate dehydrogenase complex iron sulfur subunit B",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/sdhb"
      },
      {
        "slug": "sdhd",
        "symbol": "SDHD",
        "name": "succinate dehydrogenase complex subunit D",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/sdhd"
      },
      {
        "slug": "tmem127",
        "symbol": "TMEM127",
        "name": "transmembrane protein 127",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/tmem127"
      },
      {
        "slug": "ret",
        "symbol": "RET",
        "name": "ret proto-oncogene",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/ret"
      },
      {
        "slug": "sdha",
        "symbol": "SDHA",
        "name": "succinate dehydrogenase complex flavoprotein subunit A",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/sdha"
      },
      {
        "slug": "sdhaf2",
        "symbol": "SDHAF2",
        "name": "succinate dehydrogenase complex assembly factor 2",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/sdhaf2"
      },
      {
        "slug": "sdhc",
        "symbol": "SDHC",
        "name": "succinate dehydrogenase complex subunit C",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/sdhc"
      },
      {
        "slug": "vhl",
        "symbol": "VHL",
        "name": "von Hippel-Lindau tumor suppressor",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/vhl"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 2,
    "url": "https://dantelabs.com/genes/max/variants",
    "items": [
      {
        "slug": "a67d",
        "name": "A67D",
        "commonName": null,
        "symbol": "MAX",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "hgvsC": "c.200C>A",
        "position": 65078008,
        "grch37Position": 65544726,
        "part": {
          "kind": "exon",
          "number": 4
        },
        "url": "https://dantelabs.com/genes/max/variants/a67d"
      },
      {
        "slug": "r33x",
        "name": "R33X",
        "commonName": null,
        "symbol": "MAX",
        "classification": "pathogenic",
        "stars": 2,
        "hgvsC": "c.97C>T",
        "position": 65093782,
        "grch37Position": 65560500,
        "part": {
          "kind": "exon",
          "number": 3
        },
        "url": "https://dantelabs.com/genes/max/variants/r33x"
      }
    ]
  }
}