{
  "url": "https://dantelabs.com/hu/genes/psmb8",
  "gene": {
    "slug": "psmb8",
    "symbol": "PSMB8",
    "name": "proteasome 20S subunit beta 8",
    "hgnc": "HGNC:9545",
    "summary": null,
    "location": "6p21.32",
    "locusType": "gene with protein product",
    "aliases": [
      "RING10",
      "D6S216E",
      "PSMB5i",
      "beta5i"
    ],
    "previousSymbols": [
      "LMP7"
    ],
    "ensemblId": "ENSG00000204264",
    "entrezId": 5696,
    "omim": [
      "177046"
    ],
    "uniprot": [
      "P28062"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "6",
      "start": 32840717,
      "end": 32844047,
      "strand": "-",
      "ensemblTranscript": "ENST00000374882.8",
      "refseqTranscript": "NM_148919.4",
      "ensemblProtein": "ENSP00000364016.4",
      "refseqProtein": "NP_683720.2",
      "exons": [
        {
          "start": 32840717,
          "end": 32841047
        },
        {
          "start": 32841531,
          "end": 32841735
        },
        {
          "start": 32842134,
          "end": 32842263
        },
        {
          "start": 32842672,
          "end": 32842783
        },
        {
          "start": 32842942,
          "end": 32843089
        },
        {
          "start": 32843850,
          "end": 32844047
        }
      ],
      "cds": {
        "start": 32840959,
        "end": 32843996
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "6",
      "start": 32808494,
      "end": 32812480,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 32342382,
      "end": 33342381,
      "genes": [
        {
          "symbol": "TSBP1",
          "ensemblId": "ENSG00000204296",
          "biotype": "protein_coding",
          "start": 32288526,
          "end": 32371907,
          "strand": "-",
          "slug": "tsbp1"
        },
        {
          "symbol": "BTNL2",
          "ensemblId": "ENSG00000204290",
          "biotype": "protein_coding",
          "start": 32391481,
          "end": 32407181,
          "strand": "-",
          "slug": "btnl2"
        },
        {
          "symbol": "HLA-DRA",
          "ensemblId": "ENSG00000204287",
          "biotype": "protein_coding",
          "start": 32439870,
          "end": 32445181,
          "strand": "+",
          "slug": "hla-dra"
        },
        {
          "symbol": "HLA-DRB5",
          "ensemblId": "ENSG00000198502",
          "biotype": "protein_coding",
          "start": 32516622,
          "end": 32530369,
          "strand": "-",
          "slug": "hla-drb5"
        },
        {
          "symbol": "HLA-DRB1",
          "ensemblId": "ENSG00000196126",
          "biotype": "protein_coding",
          "start": 32577902,
          "end": 32589848,
          "strand": "-",
          "slug": "hla-drb1"
        },
        {
          "symbol": "HLA-DQA1",
          "ensemblId": "ENSG00000196735",
          "biotype": "protein_coding",
          "start": 32628179,
          "end": 32659533,
          "strand": "+",
          "slug": "hla-dqa1"
        },
        {
          "symbol": "HLA-DQB1",
          "ensemblId": "ENSG00000179344",
          "biotype": "protein_coding",
          "start": 32640622,
          "end": 32668383,
          "strand": "-",
          "slug": "hla-dqb1"
        },
        {
          "symbol": "HLA-DQA2",
          "ensemblId": "ENSG00000237541",
          "biotype": "protein_coding",
          "start": 32741391,
          "end": 32747198,
          "strand": "+",
          "slug": "hla-dqa2"
        },
        {
          "symbol": "HLA-DQB2",
          "ensemblId": "ENSG00000232629",
          "biotype": "protein_coding",
          "start": 32756094,
          "end": 32763563,
          "strand": "-",
          "slug": "hla-dqb2"
        },
        {
          "symbol": "HLA-DOB",
          "ensemblId": "ENSG00000241106",
          "biotype": "protein_coding",
          "start": 32812763,
          "end": 32820466,
          "strand": "-",
          "slug": "hla-dob"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000250264",
          "biotype": "protein_coding",
          "start": 32813767,
          "end": 32838822,
          "strand": "-"
        },
        {
          "symbol": "TAP2",
          "ensemblId": "ENSG00000204267",
          "biotype": "protein_coding",
          "start": 32821833,
          "end": 32838802,
          "strand": "-",
          "slug": "tap2"
        },
        {
          "symbol": "PSMB9",
          "ensemblId": "ENSG00000240065",
          "biotype": "protein_coding",
          "start": 32844136,
          "end": 32882881,
          "strand": "+",
          "slug": "psmb9"
        },
        {
          "symbol": "TAP1",
          "ensemblId": "ENSG00000168394",
          "biotype": "protein_coding",
          "start": 32845204,
          "end": 32854026,
          "strand": "-",
          "slug": "tap1"
        },
        {
          "symbol": "HLA-DMB",
          "ensemblId": "ENSG00000242574",
          "biotype": "protein_coding",
          "start": 32929338,
          "end": 32941490,
          "strand": "-",
          "slug": "hla-dmb"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000248993",
          "biotype": "protein_coding",
          "start": 32937364,
          "end": 32953122,
          "strand": "-"
        },
        {
          "symbol": "HLA-DMA",
          "ensemblId": "ENSG00000204257",
          "biotype": "protein_coding",
          "start": 32948613,
          "end": 32969094,
          "strand": "-",
          "slug": "hla-dma"
        },
        {
          "symbol": "BRD2",
          "ensemblId": "ENSG00000204256",
          "biotype": "protein_coding",
          "start": 32968564,
          "end": 32981505,
          "strand": "+",
          "slug": "brd2"
        },
        {
          "symbol": "HLA-DOA",
          "ensemblId": "ENSG00000204252",
          "biotype": "protein_coding",
          "start": 33004178,
          "end": 33009617,
          "strand": "-",
          "slug": "hla-doa"
        },
        {
          "symbol": "HLA-DPA1",
          "ensemblId": "ENSG00000231389",
          "biotype": "protein_coding",
          "start": 33064569,
          "end": 33080781,
          "strand": "-",
          "slug": "hla-dpa1"
        },
        {
          "symbol": "HLA-DPB1",
          "ensemblId": "ENSG00000223865",
          "biotype": "protein_coding",
          "start": 33073786,
          "end": 33091655,
          "strand": "+",
          "slug": "hla-dpb1"
        },
        {
          "symbol": "COL11A2",
          "ensemblId": "ENSG00000204248",
          "biotype": "protein_coding",
          "start": 33162681,
          "end": 33192802,
          "strand": "-",
          "slug": "col11a2"
        },
        {
          "symbol": "RXRB",
          "ensemblId": "ENSG00000204231",
          "biotype": "protein_coding",
          "start": 33193585,
          "end": 33200693,
          "strand": "-",
          "slug": "rxrb"
        },
        {
          "symbol": "SLC39A7",
          "ensemblId": "ENSG00000112473",
          "biotype": "protein_coding",
          "start": 33200305,
          "end": 33204439,
          "strand": "+",
          "slug": "slc39a7"
        },
        {
          "symbol": "HSD17B8",
          "ensemblId": "ENSG00000204228",
          "biotype": "protein_coding",
          "start": 33204631,
          "end": 33206831,
          "strand": "+",
          "slug": "hsd17b8"
        },
        {
          "symbol": "RING1",
          "ensemblId": "ENSG00000204227",
          "biotype": "protein_coding",
          "start": 33208033,
          "end": 33212722,
          "strand": "+",
          "slug": "ring1"
        },
        {
          "symbol": "VPS52",
          "ensemblId": "ENSG00000223501",
          "biotype": "protein_coding",
          "start": 33250272,
          "end": 33272047,
          "strand": "-",
          "slug": "vps52"
        },
        {
          "symbol": "RPS18",
          "ensemblId": "ENSG00000231500",
          "biotype": "protein_coding",
          "start": 33271730,
          "end": 33276513,
          "strand": "+",
          "slug": "rps18"
        },
        {
          "symbol": "B3GALT4",
          "ensemblId": "ENSG00000235863",
          "biotype": "protein_coding",
          "start": 33277123,
          "end": 33284832,
          "strand": "+",
          "slug": "b3galt4"
        },
        {
          "symbol": "WDR46",
          "ensemblId": "ENSG00000227057",
          "biotype": "protein_coding",
          "start": 33279103,
          "end": 33289523,
          "strand": "-",
          "slug": "wdr46"
        },
        {
          "symbol": "PFDN6",
          "ensemblId": "ENSG00000204220",
          "biotype": "protein_coding",
          "start": 33288680,
          "end": 33298441,
          "strand": "+",
          "slug": "pfdn6"
        },
        {
          "symbol": "RGL2",
          "ensemblId": "ENSG00000237441",
          "biotype": "protein_coding",
          "start": 33291180,
          "end": 33299534,
          "strand": "-",
          "slug": "rgl2"
        },
        {
          "symbol": "TAPBP",
          "ensemblId": "ENSG00000231925",
          "biotype": "protein_coding",
          "start": 33299694,
          "end": 33314284,
          "strand": "-",
          "slug": "tapbp"
        },
        {
          "symbol": "ZBTB22",
          "ensemblId": "ENSG00000236104",
          "biotype": "protein_coding",
          "start": 33314406,
          "end": 33318021,
          "strand": "-",
          "slug": "zbtb22"
        },
        {
          "symbol": "DAXX",
          "ensemblId": "ENSG00000204209",
          "biotype": "protein_coding",
          "start": 33318558,
          "end": 33323259,
          "strand": "-",
          "slug": "daxx"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000285064",
          "biotype": "protein_coding",
          "start": 33321386,
          "end": 33329286,
          "strand": "-"
        },
        {
          "symbol": "SMIM40",
          "ensemblId": "ENSG00000286920",
          "biotype": "protein_coding",
          "start": 33323628,
          "end": 33329279,
          "strand": "-",
          "slug": "smim40"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "rare-monogenic-autoinflammatory-diseases",
        "name": "Rare Monogenic Autoinflammatory Diseases",
        "diseases": [
          {
            "mondoId": "MONDO:0957018",
            "name": "PTPN2-related autoinflammation and autoimmunity",
            "genes": 22,
            "inheritance": "autosomal-dominant",
            "description": "Early-onset inflammatory and autoimmune disease, including colitis and arthritis, caused by variants in PTPN2.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/rare-monogenic-autoinflammatory-diseases"
      },
      {
        "slug": "type-1-interferonopathies",
        "name": "Type I Interferonopathies",
        "diseases": [
          {
            "mondoId": "MONDO:0009726",
            "name": "Proteasome-associated autoinflammatory syndromes (CANDLE/PRAAS)",
            "genes": 4,
            "inheritance": "autosomal-recessive",
            "description": "Recurrent fevers, skin lesions, loss of fat tissue and joint problems caused by defects in the proteasome (PSMB8, PSMB9, PSMB10, POMP and others).",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/type-1-interferonopathies"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "arrhythmia",
        "name": "Abnormal heart rate",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/arrhythmia"
      },
      {
        "slug": "macroglossia",
        "name": "Abnormally large tongue",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/macroglossia"
      },
      {
        "slug": "basal-ganglia-calcification",
        "name": "Basal ganglia calcification",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/basal-ganglia-calcification"
      },
      {
        "slug": "protuberant-abdomen",
        "name": "Belly sticks out",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/protuberant-abdomen"
      },
      {
        "slug": "bone-pain",
        "name": "Bone pain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bone-pain"
      },
      {
        "slug": "proptosis",
        "name": "Bulging eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/proptosis"
      },
      {
        "slug": "hallux-valgus",
        "name": "Bunion",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hallux-valgus"
      },
      {
        "slug": "congestive-heart-failure",
        "name": "Cardiac failure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/congestive-heart-failure"
      },
      {
        "slug": "chronic-constipation",
        "name": "Chronic constipation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chronic-constipation"
      },
      {
        "slug": "clubbing-of-fingers",
        "name": "Clubbing of fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/clubbing-of-fingers"
      },
      {
        "slug": "acanthosis-nigricans",
        "name": "Darkened and thickened skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/acanthosis-nigricans"
      },
      {
        "slug": "loss-of-facial-adipose-tissue",
        "name": "Decreased amount of facial fat",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/loss-of-facial-adipose-tissue"
      },
      {
        "slug": "decreased-circulating-hdl-c-concentration",
        "name": "Decreased circulating high-density lipoprotein cholesterol",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-hdl-c-concentration"
      },
      {
        "slug": "diminished-deep-tendon-reflex",
        "name": "Diminished deep tendon reflex",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/diminished-deep-tendon-reflex"
      },
      {
        "slug": "elbow-flexion-contracture",
        "name": "Elbow flexion contracture",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/elbow-flexion-contracture"
      },
      {
        "slug": "elevated-circulating-c-reactive-protein-concentration",
        "name": "Elevated circulating C-reactive protein concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-c-reactive-protein-concentration"
      },
      {
        "slug": "elevated-circulating-thyroid-stimulating-hormone-concentration",
        "name": "Elevated circulating thyroid-stimulating hormone concentration",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-circulating-thyroid-stimulating-hormone-concentration"
      },
      {
        "slug": "cardiomegaly",
        "name": "Enlarged heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/cardiomegaly"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "gynecomastia",
        "name": "Enlarged male breast",
        "systems": [
          "abnormality-of-the-breast"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gynecomastia"
      },
      {
        "slug": "epididymitis",
        "name": "Epididymitis",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/epididymitis"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "recurrent-fever",
        "name": "Episodic fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-fever"
      },
      {
        "slug": "erythema-nodosum",
        "name": "Erythema nodosum",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/erythema-nodosum"
      },
      {
        "slug": "hypertrichosis",
        "name": "Excessive hair growth",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertrichosis"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "finger-swelling",
        "name": "Finger swelling",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/finger-swelling"
      },
      {
        "slug": "flexion-contracture",
        "name": "Flexed joint that cannot be straightened",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/flexion-contracture"
      },
      {
        "slug": "flexion-contracture-of-finger",
        "name": "Flexion contracture of finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/flexion-contracture-of-finger"
      },
      {
        "slug": "flexion-contracture-of-toe",
        "name": "Flexion contracture of toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/flexion-contracture-of-toe"
      },
      {
        "slug": "thick-lower-lip-vermilion",
        "name": "Full lower lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/thick-lower-lip-vermilion"
      },
      {
        "slug": "growth-abnormality",
        "name": "Growth abnormality",
        "systems": [],
        "url": "https://dantelabs.com/traits/growth-abnormality"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "elevated-erythrocyte-sedimentation-rate",
        "name": "High ESR",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-erythrocyte-sedimentation-rate"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "impaired-glucose-tolerance",
        "name": "Impaired glucose tolerance",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/impaired-glucose-tolerance"
      },
      {
        "slug": "lipodystrophy",
        "name": "Inability to make and keep healthy fat tissue",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lipodystrophy"
      },
      {
        "slug": "increased-circulating-immunoglobulin-concentration",
        "name": "Increased antibody level in blood",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-immunoglobulin-concentration"
      },
      {
        "slug": "increased-circulating-iga-concentration",
        "name": "Increased circulating IgA concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-iga-concentration"
      },
      {
        "slug": "increased-circulating-igg-concentration",
        "name": "Increased circulating IgG concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-igg-concentration"
      },
      {
        "slug": "increased-circulating-interferon-gamma-concentration",
        "name": "Increased circulating interferon-gamma concentration",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-interferon-gamma-concentration"
      },
      {
        "slug": "increased-circulating-interleukin-6-concentration",
        "name": "Increased circulating interleukin 6 concentration",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-interleukin-6-concentration"
      },
      {
        "slug": "increased-circulating-interleukin-8-concentration",
        "name": "Increased circulating interleukin 8 concentration",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-interleukin-8-concentration"
      },
      {
        "slug": "hypertriglyceridemia",
        "name": "Increased plasma triglycerides",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertriglyceridemia"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "panniculitis",
        "name": "Inflammation of fat tissue",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/panniculitis"
      },
      {
        "slug": "episcleritis",
        "name": "Inflammation of the thin layer on top of the white part of eye",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/episcleritis"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "mild-intellectual-disability",
        "name": "Intellectual disability, mild",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mild-intellectual-disability"
      },
      {
        "slug": "arthralgia",
        "name": "Joint pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/arthralgia"
      },
      {
        "slug": "macrotia",
        "name": "Large ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/macrotia"
      },
      {
        "slug": "sparse-axillary-hair",
        "name": "Limited armpit hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sparse-axillary-hair"
      },
      {
        "slug": "long-fingers",
        "name": "Long fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/long-fingers"
      },
      {
        "slug": "adipose-tissue-loss",
        "name": "Loss of fat tissue",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/adipose-tissue-loss"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "irregular-menstruation",
        "name": "Menstrual irregularity",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/irregular-menstruation"
      },
      {
        "slug": "microcytic-anemia",
        "name": "Microcytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microcytic-anemia"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "parotitis",
        "name": "Parotitis",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/parotitis"
      },
      {
        "slug": "hyperpigmentation-of-the-skin",
        "name": "Patchy darkened skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/hyperpigmentation-of-the-skin"
      },
      {
        "slug": "camptodactyly-of-finger",
        "name": "Permanent flexion of the finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/camptodactyly-of-finger"
      },
      {
        "slug": "conjunctivitis",
        "name": "Pink eye",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/conjunctivitis"
      },
      {
        "slug": "progeroid-facial-appearance",
        "name": "Premature aged appearance",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/progeroid-facial-appearance"
      },
      {
        "slug": "premature-graying-of-hair",
        "name": "Premature graying of hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/premature-graying-of-hair"
      },
      {
        "slug": "prominent-nose",
        "name": "Prominent nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/prominent-nose"
      },
      {
        "slug": "punctate-opacification-of-the-cornea",
        "name": "Punctate opacification of the cornea",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/punctate-opacification-of-the-cornea"
      },
      {
        "slug": "recurrent-upper-respiratory-tract-infections",
        "name": "Recurrent colds",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-upper-respiratory-tract-infections"
      },
      {
        "slug": "recurrent-otitis-media",
        "name": "Recurrent middle ear infection",
        "systems": [
          "abnormality-of-the-ear",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-otitis-media"
      },
      {
        "slug": "recurrent-sinusitis",
        "name": "Recurrent sinus disease",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-sinusitis"
      },
      {
        "slug": "erythema",
        "name": "Redness of skin or mucous membrane",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/erythema"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "skin-plaque",
        "name": "Skin plaque",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/skin-plaque"
      },
      {
        "slug": "hypoplastic-scapulae",
        "name": "Small shoulder blade",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplastic-scapulae"
      },
      {
        "slug": "stiff-skin",
        "name": "Stiff skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/stiff-skin"
      },
      {
        "slug": "lymphadenopathy",
        "name": "Swollen lymph nodes",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lymphadenopathy"
      }
    ],
    "related": [
      {
        "slug": "pomp",
        "symbol": "POMP",
        "name": "proteasome maturation protein",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/pomp"
      },
      {
        "slug": "psmb10",
        "symbol": "PSMB10",
        "name": "proteasome 20S subunit beta 10",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/psmb10"
      },
      {
        "slug": "psmb9",
        "symbol": "PSMB9",
        "name": "proteasome 20S subunit beta 9",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/psmb9"
      },
      {
        "slug": "acp5",
        "symbol": "ACP5",
        "name": "acid phosphatase 5, tartrate resistant",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/acp5"
      },
      {
        "slug": "ada2",
        "symbol": "ADA2",
        "name": "adenosine deaminase 2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ada2"
      },
      {
        "slug": "adar",
        "symbol": "ADAR",
        "name": "adenosine deaminase RNA specific",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/adar"
      },
      {
        "slug": "copa",
        "symbol": "COPA",
        "name": "coat protein complex I subunit alpha",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/copa"
      },
      {
        "slug": "ifih1",
        "symbol": "IFIH1",
        "name": "interferon induced with helicase C domain 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ifih1"
      },
      {
        "slug": "pola1",
        "symbol": "POLA1",
        "name": "DNA polymerase alpha 1, catalytic subunit",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/pola1"
      },
      {
        "slug": "ptpn2",
        "symbol": "PTPN2",
        "name": "protein tyrosine phosphatase non-receptor type 2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ptpn2"
      },
      {
        "slug": "rigi",
        "symbol": "RIGI",
        "name": "RNA sensor RIG-I",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/rigi"
      },
      {
        "slug": "rnaseh2a",
        "symbol": "RNASEH2A",
        "name": "ribonuclease H2 subunit A",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/rnaseh2a"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}