{
  "url": "https://dantelabs.com/el/genes/tgm1",
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          "symbol": "NEDD8-MDP1",
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        {
          "symbol": "GMPR2",
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          "symbol": "TINF2",
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          "symbol": "RABGGTA",
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        {
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          "symbol": "LTB4R2",
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        {
          "symbol": "LTB4R",
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          "symbol": "RIPK3",
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        {
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        {
          "symbol": "NYNRIN",
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          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "nynrin"
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        {
          "symbol": "KHNYN",
          "ensemblId": "ENSG00000100441",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "khnyn"
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        {
          "symbol": "CBLN3",
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          "slug": "cbln3"
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        {
          "symbol": "SDR39U1",
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          "biotype": "protein_coding",
          "start": 24439651,
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          "strand": "-",
          "slug": "sdr39u1"
        },
        {
          "symbol": "CMA1",
          "ensemblId": "ENSG00000092009",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "cma1"
        },
        {
          "symbol": "CTSG",
          "ensemblId": "ENSG00000100448",
          "biotype": "protein_coding",
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        },
        {
          "symbol": "GZMH",
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          "biotype": "protein_coding",
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        {
          "symbol": "GZMB",
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      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "inherited-ichthyoses",
        "name": "Κληρονομικές ιχθύαστες",
        "diseases": [
          {
            "mondoId": "MONDO:0017265",
            "name": "Συγγενής ιχθύαση αυτοσωμικής υπολειπόμενης κληρονομικότητας",
            "genes": 15,
            "inheritance": "autosomal-recessive",
            "description": "Ομάδα υπολειπόμενων ιχθύασεων, συμπεριλαμβανομένης της ιχθύασης harlequin και της λαμελλώδους ιχθύασης, που συνήθως εμφανίζονται κατά τη γέννηση, συχνά με μεμβράνη κολλοδίου.",
            "management": "Η έγκαιρη διάγνωση καθοδηγεί τη νεογνική φροντίδα, τα σχήματα εφαρμογής εμολλιέντων και κερατολυτικών, καθώς και τις προφυλάξεις για την ανοχή στη θερμότητα.",
            "evidence": {
              "gencc": [
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Myriad Women's Health",
                "Natera",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/inherited-ichthyoses"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-helix-morphology",
        "name": "Abnormal helix morphology",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-helix-morphology"
      },
      {
        "slug": "abnormal-nail-morphology",
        "name": "Abnormality of the nail",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-nail-morphology"
      },
      {
        "slug": "amniotic-constriction-ring",
        "name": "Amniotic constriction ring",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/amniotic-constriction-ring"
      },
      {
        "slug": "nail-dysplasia",
        "name": "Atypical nail growth",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nail-dysplasia"
      },
      {
        "slug": "autoamputation-of-digits",
        "name": "Autoamputation of digits",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/autoamputation-of-digits"
      },
      {
        "slug": "keratoconus",
        "name": "Bulging cornea",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/keratoconus"
      },
      {
        "slug": "chronic-irritative-conjunctivitis",
        "name": "Chronic irritative conjunctivitis",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chronic-irritative-conjunctivitis"
      },
      {
        "slug": "cicatricial-ectropion",
        "name": "Cicatricial ectropion",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cicatricial-ectropion"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "conductive-hearing-impairment",
        "name": "Conductive deafness",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/conductive-hearing-impairment"
      },
      {
        "slug": "congenital-ichthyosiform-erythroderma",
        "name": "Congenital ichthyosiform erythroderma",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/congenital-ichthyosiform-erythroderma"
      },
      {
        "slug": "congenital-nonbullous-ichthyosiform-erythroderma",
        "name": "Congenital nonbullous ichthyosiform erythroderma",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/congenital-nonbullous-ichthyosiform-erythroderma"
      },
      {
        "slug": "keratitis",
        "name": "Corneal inflammation",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/keratitis"
      },
      {
        "slug": "corneal-perforation",
        "name": "Corneal perforation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/corneal-perforation"
      },
      {
        "slug": "corneal-ulceration",
        "name": "Corneal ulceration",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/corneal-ulceration"
      },
      {
        "slug": "skin-fissure",
        "name": "Cracked skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/skin-fissure"
      },
      {
        "slug": "corneal-erosion",
        "name": "Damage to outer layer of the cornea of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/corneal-erosion"
      },
      {
        "slug": "hypohidrosis",
        "name": "Decreased ability to sweat",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypohidrosis"
      },
      {
        "slug": "dehydration",
        "name": "Dehydration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dehydration"
      },
      {
        "slug": "desquamation-of-skin-soon-after-birth",
        "name": "Desquamation of skin soon after birth",
        "systems": [
          "abnormality-of-prenatal-development-or-birth",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/desquamation-of-skin-soon-after-birth"
      },
      {
        "slug": "diminished-health-related-quality-of-life",
        "name": "Diminished health-related quality of life",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/diminished-health-related-quality-of-life"
      },
      {
        "slug": "everted-lower-lip-vermilion",
        "name": "Drooping lower lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/everted-lower-lip-vermilion"
      },
      {
        "slug": "dry-skin",
        "name": "Dry skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/dry-skin"
      },
      {
        "slug": "edema-of-the-dorsum-of-feet",
        "name": "Edema of the dorsum of feet",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/edema-of-the-dorsum-of-feet"
      },
      {
        "slug": "edema-of-the-dorsum-of-hands",
        "name": "Edema of the dorsum of hands",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/edema-of-the-dorsum-of-hands"
      },
      {
        "slug": "euryblepharon",
        "name": "Euryblepharon",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/euryblepharon"
      },
      {
        "slug": "ectropion",
        "name": "Everted eyelid",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ectropion"
      },
      {
        "slug": "eyebrow-scaling-skin",
        "name": "Eyebrow scaling skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/eyebrow-scaling-skin"
      },
      {
        "slug": "entropion",
        "name": "Eyelid folded in",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/entropion"
      },
      {
        "slug": "lagophthalmos",
        "name": "Eyelids stay open",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lagophthalmos"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "flexion-contracture",
        "name": "Flexed joint that cannot be straightened",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/flexion-contracture"
      },
      {
        "slug": "generalized-scaling",
        "name": "Generalized scaling",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/generalized-scaling"
      },
      {
        "slug": "alopecia",
        "name": "Hair loss",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/alopecia"
      },
      {
        "slug": "scarring-alopecia-of-scalp",
        "name": "Hair loss on scalp from scarring condition",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scarring-alopecia-of-scalp"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "heat-intolerance",
        "name": "Heat intolerance",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/heat-intolerance"
      },
      {
        "slug": "hyperkeratosis",
        "name": "Hyperkeratosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperkeratosis"
      },
      {
        "slug": "ichthyosis",
        "name": "Ichthyosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ichthyosis"
      },
      {
        "slug": "impaired-temperature-sensation",
        "name": "Impaired temperature sensation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/impaired-temperature-sensation"
      },
      {
        "slug": "sepsis",
        "name": "Infection in blood stream",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/sepsis"
      },
      {
        "slug": "blepharitis",
        "name": "Inflammation of eyelids",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/blepharitis"
      },
      {
        "slug": "pruritus",
        "name": "Itching",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pruritus"
      },
      {
        "slug": "limb-joint-contracture",
        "name": "Limb contractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/limb-joint-contracture"
      },
      {
        "slug": "limitation-of-joint-mobility",
        "name": "Limitation of joint mobility",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/limitation-of-joint-mobility"
      },
      {
        "slug": "localized-epidermolytic-hyperkeratosis",
        "name": "Localized epidermolytic hyperkeratosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/localized-epidermolytic-hyperkeratosis"
      },
      {
        "slug": "loss-of-eyelashes",
        "name": "Loss of eyelashes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/loss-of-eyelashes"
      },
      {
        "slug": "multiple-joint-contractures",
        "name": "Multiple joint contractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/multiple-joint-contractures"
      },
      {
        "slug": "eclabion",
        "name": "Outward turned lips",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/eclabion"
      },
      {
        "slug": "pain",
        "name": "Pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pain"
      },
      {
        "slug": "palmoplantar-scaling-skin",
        "name": "Palmoplantar scaling skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/palmoplantar-scaling-skin"
      },
      {
        "slug": "parakeratosis",
        "name": "Parakeratosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/parakeratosis"
      },
      {
        "slug": "nail-dystrophy",
        "name": "Poor nail formation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nail-dystrophy"
      },
      {
        "slug": "punctal-stenosis",
        "name": "Punctal stenosis",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/punctal-stenosis"
      },
      {
        "slug": "recurrent-infections",
        "name": "Recurrent infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-infections"
      },
      {
        "slug": "erythroderma",
        "name": "Red scaly skin caused by inflammatory skin disease",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/erythroderma"
      },
      {
        "slug": "erythema",
        "name": "Redness of skin or mucous membrane",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/erythema"
      },
      {
        "slug": "scaling-skin",
        "name": "Scaling skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/scaling-skin"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "sparse-hair",
        "name": "Sparse hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sparse-hair"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-eyebrow",
        "name": "Sparse or absent eyebrows",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-eyebrow"
      },
      {
        "slug": "stiff-skin",
        "name": "Stiff skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/stiff-skin"
      },
      {
        "slug": "thickened-skin",
        "name": "Thickened skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/thickened-skin"
      },
      {
        "slug": "palmoplantar-keratoderma",
        "name": "Thickening of palms and soles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/palmoplantar-keratoderma"
      },
      {
        "slug": "palmoplantar-hyperkeratosis",
        "name": "Thickening of the outer layer of the skin of the palms and soles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/palmoplantar-hyperkeratosis"
      },
      {
        "slug": "epidermal-acanthosis",
        "name": "Thickening of upper layer of skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/epidermal-acanthosis"
      },
      {
        "slug": "lack-of-skin-elasticity",
        "name": "Tight skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/lack-of-skin-elasticity"
      }
    ],
    "related": [
      {
        "slug": "abca12",
        "symbol": "ABCA12",
        "name": "ATP binding cassette subfamily A member 12",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/abca12"
      },
      {
        "slug": "alox12b",
        "symbol": "ALOX12B",
        "name": "arachidonate 12-lipoxygenase, 12R type",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/alox12b"
      },
      {
        "slug": "aloxe3",
        "symbol": "ALOXE3",
        "name": "arachidonate epidermal lipoxygenase 3",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/aloxe3"
      },
      {
        "slug": "cers3",
        "symbol": "CERS3",
        "name": "ceramide synthase 3",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/cers3"
      },
      {
        "slug": "csta",
        "symbol": "CSTA",
        "name": "cystatin A",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/csta"
      },
      {
        "slug": "cyp4f22",
        "symbol": "CYP4F22",
        "name": "cytochrome P450 family 4 subfamily F member 22",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/cyp4f22"
      },
      {
        "slug": "krt2",
        "symbol": "KRT2",
        "name": "keratin 2",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/krt2"
      },
      {
        "slug": "lipn",
        "symbol": "LIPN",
        "name": "lipase family member N",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/lipn"
      },
      {
        "slug": "nipal4",
        "symbol": "NIPAL4",
        "name": "NIPA like domain containing 4",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/nipal4"
      },
      {
        "slug": "pnpla1",
        "symbol": "PNPLA1",
        "name": "patatin like domain 1, omega-hydroxyceramide transacylase",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/pnpla1"
      },
      {
        "slug": "sdr9c7",
        "symbol": "SDR9C7",
        "name": "short chain dehydrogenase/reductase family 9C member 7",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/sdr9c7"
      },
      {
        "slug": "serpinb8",
        "symbol": "SERPINB8",
        "name": "serpin family B member 8",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/serpinb8"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}