{
  "url": "https://dantelabs.com/fr/genes/tmem127",
  "gene": {
    "slug": "tmem127",
    "symbol": "TMEM127",
    "name": "transmembrane protein 127",
    "hgnc": "HGNC:26038",
    "summary": null,
    "location": "2q11.2",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ20507",
      "FLJ22257"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000135956",
    "entrezId": 55654,
    "omim": [
      "613403"
    ],
    "uniprot": [
      "O75204"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 96248514,
      "end": 96265997,
      "strand": "-",
      "ensemblTranscript": "ENST00000258439.8",
      "refseqTranscript": "NM_017849.4",
      "ensemblProtein": "ENSP00000258439.3",
      "refseqProtein": "NP_060319.1",
      "exons": [
        {
          "start": 96248514,
          "end": 96254115
        },
        {
          "start": 96254833,
          "end": 96254997
        },
        {
          "start": 96265138,
          "end": 96265512
        },
        {
          "start": 96265869,
          "end": 96265997
        }
      ],
      "cds": {
        "start": 96253808,
        "end": 96265381
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 96914254,
      "end": 96931732,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 95757256,
      "end": 96757255,
      "genes": [
        {
          "symbol": "ANKRD36C",
          "ensemblId": "ENSG00000174501",
          "biotype": "protein_coding",
          "start": 95836919,
          "end": 95991843,
          "strand": "-",
          "slug": "ankrd36c"
        },
        {
          "symbol": "GPAT2",
          "ensemblId": "ENSG00000186281",
          "biotype": "protein_coding",
          "start": 96021943,
          "end": 96039451,
          "strand": "-",
          "slug": "gpat2"
        },
        {
          "symbol": "ADRA2B",
          "ensemblId": "ENSG00000274286",
          "biotype": "protein_coding",
          "start": 96112876,
          "end": 96116571,
          "strand": "-",
          "slug": "adra2b"
        },
        {
          "symbol": "ASTL",
          "ensemblId": "ENSG00000188886",
          "biotype": "protein_coding",
          "start": 96122818,
          "end": 96138564,
          "strand": "-",
          "slug": "astl"
        },
        {
          "symbol": "DUSP2",
          "ensemblId": "ENSG00000158050",
          "biotype": "protein_coding",
          "start": 96143166,
          "end": 96145447,
          "strand": "-",
          "slug": "dusp2"
        },
        {
          "symbol": "STARD7",
          "ensemblId": "ENSG00000084090",
          "biotype": "protein_coding",
          "start": 96184859,
          "end": 96208854,
          "strand": "-",
          "slug": "stard7"
        },
        {
          "symbol": "CIAO1",
          "ensemblId": "ENSG00000144021",
          "biotype": "protein_coding",
          "start": 96266159,
          "end": 96274173,
          "strand": "+",
          "slug": "ciao1"
        },
        {
          "symbol": "SNRNP200",
          "ensemblId": "ENSG00000144028",
          "biotype": "protein_coding",
          "start": 96274336,
          "end": 96321271,
          "strand": "-",
          "slug": "snrnp200"
        },
        {
          "symbol": "ITPRIPL1",
          "ensemblId": "ENSG00000198885",
          "biotype": "protein_coding",
          "start": 96324977,
          "end": 96330517,
          "strand": "+",
          "slug": "itpripl1"
        },
        {
          "symbol": "NCAPH",
          "ensemblId": "ENSG00000121152",
          "biotype": "protein_coding",
          "start": 96335728,
          "end": 96377091,
          "strand": "+",
          "slug": "ncaph"
        },
        {
          "symbol": "NEURL3",
          "ensemblId": "ENSG00000163121",
          "biotype": "protein_coding",
          "start": 96497644,
          "end": 96508153,
          "strand": "-",
          "slug": "neurl3"
        },
        {
          "symbol": "ARID5A",
          "ensemblId": "ENSG00000196843",
          "biotype": "protein_coding",
          "start": 96536699,
          "end": 96552639,
          "strand": "+",
          "slug": "arid5a"
        },
        {
          "symbol": "KANSL3",
          "ensemblId": "ENSG00000114982",
          "biotype": "protein_coding",
          "start": 96584179,
          "end": 96642787,
          "strand": "-",
          "slug": "kansl3"
        },
        {
          "symbol": "FER1L5",
          "ensemblId": "ENSG00000249715",
          "biotype": "protein_coding",
          "start": 96642737,
          "end": 96704887,
          "strand": "+",
          "slug": "fer1l5"
        },
        {
          "symbol": "LMAN2L",
          "ensemblId": "ENSG00000114988",
          "biotype": "protein_coding",
          "start": 96704824,
          "end": 96740087,
          "strand": "-",
          "slug": "lman2l"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-pheochromocytoma-paraganglioma",
        "name": "Phéochromocytome et paragangliome héréditaires",
        "diseases": [
          {
            "mondoId": "MONDO:0008233",
            "name": "Phéochromocytome héréditaire",
            "genes": 6,
            "inheritance": "autosomal-dominant",
            "description": "Prédisposition héréditaire aux tumeurs productrices de catécholamines de la médullosurrénale.",
            "management": "Le dépistage biochimique et l'imagerie permettent de détecter et de retirer les tumeurs à un stade précoce.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": true,
              "inheritance": [
                "autosomal-dominant"
              ],
              "actionability": 11
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0017366",
            "name": "Phéochromocytome-paragangliome héréditaire",
            "genes": 7,
            "inheritance": "autosomal-dominant",
            "description": "Un groupe de syndromes (PPGL de types 1 à 7, liés à TMEM127 et à MAX) dans lesquels des variants de SDHB, SDHD, SDHC, SDHA, SDHAF2, MAX ou TMEM127 augmentent le risque de phéochromocytome et de paragangliome.",
            "management": "Un dosage régulier des métanéphrines dans le sang ou les urines, ainsi qu'une IRM corps entier réalisée périodiquement, permettent de repérer les tumeurs précocement, avant qu'elles ne provoquent des crises hypertensives ; les apparentés peuvent se voir proposer un test.",
            "evidence": {
              "gencc": [
                "ClinGen"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/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": "aniridia",
        "name": "Absent iris",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/aniridia"
      },
      {
        "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": "arachnoid-hemangiomatosis",
        "name": "Arachnoid hemangiomatosis",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/arachnoid-hemangiomatosis"
      },
      {
        "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": "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": "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": "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": "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": "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": "pheochromocytoma",
        "name": "Pheochromocytoma",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/pheochromocytoma"
      },
      {
        "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": "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": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tremor"
      },
      {
        "slug": "weight-loss",
        "name": "Weight loss",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/weight-loss"
      }
    ],
    "related": [
      {
        "slug": "max",
        "symbol": "MAX",
        "name": "MYC associated transcriptional regulator X",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/max"
      },
      {
        "slug": "sdhb",
        "symbol": "SDHB",
        "name": "succinate dehydrogenase complex iron sulfur subunit B",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/sdhb"
      },
      {
        "slug": "sdhd",
        "symbol": "SDHD",
        "name": "succinate dehydrogenase complex subunit D",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/sdhd"
      },
      {
        "slug": "ret",
        "symbol": "RET",
        "name": "ret proto-oncogene",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/ret"
      },
      {
        "slug": "sdha",
        "symbol": "SDHA",
        "name": "succinate dehydrogenase complex flavoprotein subunit A",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/sdha"
      },
      {
        "slug": "sdhaf2",
        "symbol": "SDHAF2",
        "name": "succinate dehydrogenase complex assembly factor 2",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/sdhaf2"
      },
      {
        "slug": "sdhc",
        "symbol": "SDHC",
        "name": "succinate dehydrogenase complex subunit C",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/sdhc"
      },
      {
        "slug": "vhl",
        "symbol": "VHL",
        "name": "von Hippel-Lindau tumor suppressor",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/vhl"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 11,
    "url": "https://dantelabs.com/genes/tmem127/variants",
    "items": [
      {
        "slug": "c-2t-c",
        "name": "c.2T>C",
        "commonName": null,
        "symbol": "TMEM127",
        "classification": "pathogenic",
        "stars": 2,
        "hgvsC": null,
        "position": 96265380,
        "grch37Position": 96931118,
        "part": {
          "kind": "exon",
          "number": 2
        },
        "url": "https://dantelabs.com/genes/tmem127/variants/c-2t-c"
      },
      {
        "slug": "c-245-1g-a",
        "name": "c.245-1G>A",
        "commonName": null,
        "symbol": "TMEM127",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "hgvsC": null,
        "position": 96254998,
        "grch37Position": 96920736,
        "part": {
          "kind": "intron",
          "number": 2
        },
        "url": "https://dantelabs.com/genes/tmem127/variants/c-245-1g-a"
      },
      {
        "slug": "c-245-1g-c",
        "name": "c.245-1G>C",
        "commonName": null,
        "symbol": "TMEM127",
        "classification": "pathogenic",
        "stars": 2,
        "hgvsC": null,
        "position": 96254998,
        "grch37Position": 96920736,
        "part": {
          "kind": "intron",
          "number": 2
        },
        "url": "https://dantelabs.com/genes/tmem127/variants/c-245-1g-c"
      },
      {
        "slug": "c-410-2a-c",
        "name": "c.410-2A>C",
        "commonName": null,
        "symbol": "TMEM127",
        "classification": "pathogenic",
        "stars": 2,
        "hgvsC": null,
        "position": 96254117,
        "grch37Position": 96919855,
        "part": {
          "kind": "intron",
          "number": 3
        },
        "url": "https://dantelabs.com/genes/tmem127/variants/c-410-2a-c"
      },
      {
        "slug": "f83sfs3",
        "name": "F83Sfs*3",
        "commonName": null,
        "symbol": "TMEM127",
        "classification": "pathogenic",
        "stars": 2,
        "hgvsC": "c.248del",
        "position": 96254993,
        "grch37Position": 96920731,
        "part": {
          "kind": "exon",
          "number": 3
        },
        "url": "https://dantelabs.com/genes/tmem127/variants/f83sfs3"
      },
      {
        "slug": "g5efs76",
        "name": "G5Efs*76",
        "commonName": null,
        "symbol": "TMEM127",
        "classification": "pathogenic",
        "stars": 2,
        "hgvsC": "c.12del",
        "position": 96265369,
        "grch37Position": 96931107,
        "part": {
          "kind": "exon",
          "number": 2
        },
        "url": "https://dantelabs.com/genes/tmem127/variants/g5efs76"
      },
      {
        "slug": "h133r",
        "name": "H133R",
        "commonName": null,
        "symbol": "TMEM127",
        "classification": "likely-pathogenic",
        "stars": 2,
        "hgvsC": "c.398A>G",
        "position": 96254844,
        "grch37Position": 96920582,
        "part": {
          "kind": "exon",
          "number": 3
        },
        "url": "https://dantelabs.com/genes/tmem127/variants/h133r"
      },
      {
        "slug": "i41rfs39",
        "name": "I41Rfs*39",
        "commonName": null,
        "symbol": "TMEM127",
        "classification": "pathogenic",
        "stars": 2,
        "hgvsC": "c.117_120del",
        "position": 96265261,
        "grch37Position": 96930999,
        "part": {
          "kind": "exon",
          "number": 2
        },
        "url": "https://dantelabs.com/genes/tmem127/variants/i41rfs39"
      },
      {
        "slug": "l155x",
        "name": "L155X",
        "commonName": null,
        "symbol": "TMEM127",
        "classification": "pathogenic",
        "stars": 2,
        "hgvsC": "c.464T>A",
        "position": 96254061,
        "grch37Position": 96919799,
        "part": {
          "kind": "exon",
          "number": 4
        },
        "url": "https://dantelabs.com/genes/tmem127/variants/l155x"
      },
      {
        "slug": "q157x",
        "name": "Q157X",
        "commonName": null,
        "symbol": "TMEM127",
        "classification": "pathogenic",
        "stars": 2,
        "hgvsC": "c.469C>T",
        "position": 96254056,
        "grch37Position": 96919794,
        "part": {
          "kind": "exon",
          "number": 4
        },
        "url": "https://dantelabs.com/genes/tmem127/variants/q157x"
      },
      {
        "slug": "v68gfs40",
        "name": "V68Gfs*40",
        "commonName": null,
        "symbol": "TMEM127",
        "classification": "pathogenic",
        "stars": 2,
        "hgvsC": "c.202dup",
        "position": 96265179,
        "grch37Position": 96930917,
        "part": {
          "kind": "exon",
          "number": 2
        },
        "url": "https://dantelabs.com/genes/tmem127/variants/v68gfs40"
      }
    ]
  }
}