{
  "url": "https://dantelabs.com/pl/genes/kcnj10",
  "gene": {
    "slug": "kcnj10",
    "symbol": "KCNJ10",
    "name": "potassium inwardly rectifying channel subfamily J member 10",
    "hgnc": "HGNC:6256",
    "summary": null,
    "location": "1q23.2",
    "locusType": "gene with protein product",
    "aliases": [
      "Kir4.1",
      "Kir1.2"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000177807",
    "entrezId": 3766,
    "omim": [
      "602208"
    ],
    "uniprot": [
      "P78508"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 160037467,
      "end": 160070160,
      "strand": "-",
      "ensemblTranscript": "ENST00000644903.1",
      "refseqTranscript": "NM_002241.5",
      "ensemblProtein": "ENSP00000495557.1",
      "refseqProtein": "NP_002232.2",
      "exons": [
        {
          "start": 160037467,
          "end": 160042532
        },
        {
          "start": 160070022,
          "end": 160070160
        }
      ],
      "cds": {
        "start": 160041393,
        "end": 160042532
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 160007257,
      "end": 160040038,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 159553814,
      "end": 160553813,
      "genes": [
        {
          "symbol": "APCS",
          "ensemblId": "ENSG00000132703",
          "biotype": "protein_coding",
          "start": 159587818,
          "end": 159602430,
          "strand": "+",
          "slug": "apcs"
        },
        {
          "symbol": "CRP",
          "ensemblId": "ENSG00000132693",
          "biotype": "protein_coding",
          "start": 159711438,
          "end": 159714595,
          "strand": "-",
          "slug": "crp"
        },
        {
          "symbol": "DUSP23",
          "ensemblId": "ENSG00000158716",
          "biotype": "protein_coding",
          "start": 159780931,
          "end": 159782543,
          "strand": "+",
          "slug": "dusp23"
        },
        {
          "symbol": "FCRL6",
          "ensemblId": "ENSG00000181036",
          "biotype": "protein_coding",
          "start": 159800503,
          "end": 159816262,
          "strand": "+",
          "slug": "fcrl6"
        },
        {
          "symbol": "SLAMF8",
          "ensemblId": "ENSG00000158714",
          "biotype": "protein_coding",
          "start": 159826682,
          "end": 159837492,
          "strand": "+",
          "slug": "slamf8"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000256029",
          "biotype": "protein_coding",
          "start": 159834474,
          "end": 159873053,
          "strand": "-"
        },
        {
          "symbol": "VSIG8",
          "ensemblId": "ENSG00000243284",
          "biotype": "protein_coding",
          "start": 159854316,
          "end": 159862657,
          "strand": "-",
          "slug": "vsig8"
        },
        {
          "symbol": "CFAP45",
          "ensemblId": "ENSG00000213085",
          "biotype": "protein_coding",
          "start": 159872364,
          "end": 159900165,
          "strand": "-",
          "slug": "cfap45"
        },
        {
          "symbol": "TAGLN2",
          "ensemblId": "ENSG00000158710",
          "biotype": "protein_coding",
          "start": 159918106,
          "end": 159925546,
          "strand": "-",
          "slug": "tagln2"
        },
        {
          "symbol": "IGSF9",
          "ensemblId": "ENSG00000085552",
          "biotype": "protein_coding",
          "start": 159927039,
          "end": 159949468,
          "strand": "-",
          "slug": "igsf9"
        },
        {
          "symbol": "SLAMF9",
          "ensemblId": "ENSG00000162723",
          "biotype": "protein_coding",
          "start": 159951492,
          "end": 159954237,
          "strand": "-",
          "slug": "slamf9"
        },
        {
          "symbol": "PIGM",
          "ensemblId": "ENSG00000143315",
          "biotype": "protein_coding",
          "start": 160024953,
          "end": 160031990,
          "strand": "-",
          "slug": "pigm"
        },
        {
          "symbol": "KCNJ9",
          "ensemblId": "ENSG00000162728",
          "biotype": "protein_coding",
          "start": 160081501,
          "end": 160094277,
          "strand": "+",
          "slug": "kcnj9"
        },
        {
          "symbol": "IGSF8",
          "ensemblId": "ENSG00000162729",
          "biotype": "protein_coding",
          "start": 160091340,
          "end": 160101109,
          "strand": "-",
          "slug": "igsf8"
        },
        {
          "symbol": "ATP1A2",
          "ensemblId": "ENSG00000018625",
          "biotype": "protein_coding",
          "start": 160115755,
          "end": 160143605,
          "strand": "+",
          "slug": "atp1a2"
        },
        {
          "symbol": "ATP1A4",
          "ensemblId": "ENSG00000132681",
          "biotype": "protein_coding",
          "start": 160151586,
          "end": 160187593,
          "strand": "+",
          "slug": "atp1a4"
        },
        {
          "symbol": "CASQ1",
          "ensemblId": "ENSG00000143318",
          "biotype": "protein_coding",
          "start": 160190212,
          "end": 160201886,
          "strand": "+",
          "slug": "casq1"
        },
        {
          "symbol": "PEA15",
          "ensemblId": "ENSG00000162734",
          "biotype": "protein_coding",
          "start": 160205328,
          "end": 160220335,
          "strand": "+",
          "slug": "pea15"
        },
        {
          "symbol": "DCAF8",
          "ensemblId": "ENSG00000132716",
          "biotype": "protein_coding",
          "start": 160214840,
          "end": 160263388,
          "strand": "-",
          "slug": "dcaf8"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000258465",
          "biotype": "protein_coding",
          "start": 160216800,
          "end": 160285130,
          "strand": "-"
        },
        {
          "symbol": "PEX19",
          "ensemblId": "ENSG00000162735",
          "biotype": "protein_coding",
          "start": 160266229,
          "end": 160286348,
          "strand": "-",
          "slug": "pex19"
        },
        {
          "symbol": "COPA",
          "ensemblId": "ENSG00000122218",
          "biotype": "protein_coding",
          "start": 160288580,
          "end": 160343566,
          "strand": "-",
          "slug": "copa"
        },
        {
          "symbol": "NCSTN",
          "ensemblId": "ENSG00000162736",
          "biotype": "protein_coding",
          "start": 160343294,
          "end": 160358957,
          "strand": "+",
          "slug": "ncstn"
        },
        {
          "symbol": "NHLH1",
          "ensemblId": "ENSG00000171786",
          "biotype": "protein_coding",
          "start": 160367071,
          "end": 160372846,
          "strand": "+",
          "slug": "nhlh1"
        },
        {
          "symbol": "VANGL2",
          "ensemblId": "ENSG00000162738",
          "biotype": "protein_coding",
          "start": 160400528,
          "end": 160428678,
          "strand": "+",
          "slug": "vangl2"
        },
        {
          "symbol": "SLAMF6",
          "ensemblId": "ENSG00000162739",
          "biotype": "protein_coding",
          "start": 160484817,
          "end": 160523273,
          "strand": "-",
          "slug": "slamf6"
        },
        {
          "symbol": "CD84",
          "ensemblId": "ENSG00000066294",
          "biotype": "protein_coding",
          "start": 160541095,
          "end": 160579544,
          "strand": "-",
          "slug": "cd84"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "dystonia-myotonia-paroxysmal-dyskinesia",
        "name": "Dystonia, miotonia, napadowa dyskinezja",
        "diseases": [
          {
            "mondoId": "MONDO:0015427",
            "name": "Napadowa dyskinezja",
            "genes": 5,
            "inheritance": "autosomal-dominant",
            "description": "Napadowa dyskinezja (PD) to rzadka, niejednorodna grupa zaburzeń ruchowych, objawiających się nieprawidłowymi, mimowolnymi ruchami, które powtarzają się epizodycznie i trwają jedynie krótko. PD obejmuje napadową dyskinezę kinezjogenną (PKD), napadową dyskinezę niekinezjogenną (PNKD), napadową dyskinezę wywoływaną wysiłkiem (PED) oraz odmianę PKD, czyli zespół napadów padaczkowych w wieku niemowlęcym i choreoatetozę (zespół ICCA).",
            "management": null,
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0044807",
            "name": "Dziedziczna dystonia",
            "genes": 34,
            "inheritance": null,
            "description": "Termin zbiorczy obejmujący dziedziczne dystonie, w tym wczesnie rozpoczynającą się uogólnioną dystonię DYT-TOR1A, DYT-THAP1, mioklonię-dystonię (SGCE) oraz dystonię związaną z KMT2B.",
            "management": null,
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/pl/conditions/dystonia-myotonia-paroxysmal-dyskinesia"
      },
      {
        "slug": "familial-hypomagnesemia",
        "name": "Hipomagnezemia rodzinna",
        "diseases": [
          {
            "mondoId": "MONDO:0013005",
            "name": "Zespół EAST/SeSAME",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Autosomalnie recesywne zaburzenie związane z genem KCNJ10, łączące padaczkę, ataksję, odbiorczą utratę słuchu oraz kanalikową chorobę nerek z utratą soli i magnezu.",
            "management": "Wiedza o chorobie wspiera skoordynowaną opiekę neurologiczną, słuchową i elektrolitową.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/pl/conditions/familial-hypomagnesemia"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-speech-pattern",
        "name": "Abnormal speech pattern",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-speech-pattern"
      },
      {
        "slug": "abnormal-urinary-electrolyte-concentration",
        "name": "Abnormal urinary electrolyte concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-urinary-electrolyte-concentration"
      },
      {
        "slug": "abnormal-vestibular-function",
        "name": "Abnormal vestibular function",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/abnormal-vestibular-function"
      },
      {
        "slug": "abnormality-of-the-inner-ear",
        "name": "Abnormality of the inner ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-inner-ear"
      },
      {
        "slug": "absent-speech",
        "name": "Absent speech development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/absent-speech"
      },
      {
        "slug": "action-tremor",
        "name": "Action tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/action-tremor"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "chorea",
        "name": "Chorea",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/chorea"
      },
      {
        "slug": "chronic-axonal-neuropathy",
        "name": "Chronic axonal neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/chronic-axonal-neuropathy"
      },
      {
        "slug": "cochlear-malformation",
        "name": "Cochlear malformation",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/cochlear-malformation"
      },
      {
        "slug": "compensated-hypothyroidism",
        "name": "Compensated hypothyroidism",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/compensated-hypothyroidism"
      },
      {
        "slug": "congenital-sensorineural-hearing-impairment",
        "name": "Congenital sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/congenital-sensorineural-hearing-impairment"
      },
      {
        "slug": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebellar-atrophy"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "dysdiadochokinesis",
        "name": "Difficulty performing quick and alternating movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dysdiadochokinesis"
      },
      {
        "slug": "dyskinesia",
        "name": "Disorder of involuntary muscle movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/dyskinesia"
      },
      {
        "slug": "vertigo",
        "name": "Dizziness",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/vertigo"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "hyperparathyroidism",
        "name": "Elevated blood parathyroid hormone level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperparathyroidism"
      },
      {
        "slug": "increased-circulating-renin-concentration",
        "name": "Elevated blood renin level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-renin-concentration"
      },
      {
        "slug": "elevated-circulating-thyroglobulin-concentration",
        "name": "Elevated circulating thyroglobulin concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-thyroglobulin-concentration"
      },
      {
        "slug": "increased-circulating-aldosterone-concentration",
        "name": "Elevated plasma aldosterone",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-aldosterone-concentration"
      },
      {
        "slug": "elevated-serum-bicarbonate-concentration",
        "name": "Elevated serum bicarbonate concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-serum-bicarbonate-concentration"
      },
      {
        "slug": "goiter",
        "name": "Enlarged thyroid gland in neck",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/goiter"
      },
      {
        "slug": "enlarged-vestibular-aqueduct",
        "name": "Enlarged vestibular aqueduct",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/enlarged-vestibular-aqueduct"
      },
      {
        "slug": "enuresis",
        "name": "Enuresis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/enuresis"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "polydipsia",
        "name": "Extreme thirst",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/polydipsia"
      },
      {
        "slug": "focal-sensory-seizure",
        "name": "Focal sensory seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/focal-sensory-seizure"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "generalized-onset-seizure",
        "name": "Generalized-onset seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/generalized-onset-seizure"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "hypokalemic-metabolic-alkalosis",
        "name": "Hypokalemic metabolic alkalosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypokalemic-metabolic-alkalosis"
      },
      {
        "slug": "hypoplasia-of-the-cochlea",
        "name": "Hypoplasia of the cochlea",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-cochlea"
      },
      {
        "slug": "inability-to-walk",
        "name": "Inability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/inability-to-walk"
      },
      {
        "slug": "polyuria",
        "name": "Increased urine output",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/polyuria"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "intention-tremor",
        "name": "Intention tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/intention-tremor"
      },
      {
        "slug": "involuntary-movements",
        "name": "Involuntary movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/involuntary-movements"
      },
      {
        "slug": "athetosis",
        "name": "Involuntary writhing movements in fingers, hands, toes, and feet",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/athetosis"
      },
      {
        "slug": "nephropathy",
        "name": "Kidney damage",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nephropathy"
      },
      {
        "slug": "renal-salt-wasting",
        "name": "Loss of salt in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/renal-salt-wasting"
      },
      {
        "slug": "hypomagnesemia",
        "name": "Low blood magnesium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypomagnesemia"
      },
      {
        "slug": "hypokalemia",
        "name": "Low blood potassium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypokalemia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "hypocalciuria",
        "name": "Low urine calcium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/hypocalciuria"
      },
      {
        "slug": "lower-limb-muscle-weakness",
        "name": "Lower limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lower-limb-muscle-weakness"
      },
      {
        "slug": "metabolic-alkalosis",
        "name": "Metabolic alkalosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/metabolic-alkalosis"
      },
      {
        "slug": "migraine",
        "name": "Migraine",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/migraine"
      },
      {
        "slug": "tracheal-stenosis",
        "name": "Narrowing of windpipe",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tracheal-stenosis"
      },
      {
        "slug": "peripheral-axonal-neuropathy",
        "name": "Peripheral axonal neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/peripheral-axonal-neuropathy"
      },
      {
        "slug": "peripheral-hypomyelination",
        "name": "Peripheral hypomyelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/peripheral-hypomyelination"
      },
      {
        "slug": "renal-magnesium-wasting",
        "name": "Renal magnesium wasting",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/renal-magnesium-wasting"
      },
      {
        "slug": "renal-potassium-wasting",
        "name": "Renal potassium wasting",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/renal-potassium-wasting"
      },
      {
        "slug": "renal-sodium-wasting",
        "name": "Renal sodium wasting",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/renal-sodium-wasting"
      },
      {
        "slug": "respiratory-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      },
      {
        "slug": "salt-craving",
        "name": "Salt craving",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/salt-craving"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "thyroid-carcinoma",
        "name": "Thyroid carcinoma",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thyroid-carcinoma"
      },
      {
        "slug": "hypothyroidism",
        "name": "Underactive thyroid",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypothyroidism"
      },
      {
        "slug": "writer-s-cramp",
        "name": "Writer's cramp",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/writer-s-cramp"
      }
    ],
    "related": [
      {
        "slug": "pnkd",
        "symbol": "PNKD",
        "name": "PNKD metallo-beta-lactamase domain containing",
        "shared": 2,
        "url": "https://dantelabs.com/pl/genes/pnkd"
      },
      {
        "slug": "prrt2",
        "symbol": "PRRT2",
        "name": "proline rich transmembrane protein 2",
        "shared": 2,
        "url": "https://dantelabs.com/pl/genes/prrt2"
      },
      {
        "slug": "slc2a1",
        "symbol": "SLC2A1",
        "name": "solute carrier family 2 member 1",
        "shared": 2,
        "url": "https://dantelabs.com/pl/genes/slc2a1"
      },
      {
        "slug": "tmem151a",
        "symbol": "TMEM151A",
        "name": "transmembrane protein 151A",
        "shared": 2,
        "url": "https://dantelabs.com/pl/genes/tmem151a"
      },
      {
        "slug": "actb",
        "symbol": "ACTB",
        "name": "actin beta",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/actb"
      },
      {
        "slug": "ano3",
        "symbol": "ANO3",
        "name": "anoctamin 3",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/ano3"
      },
      {
        "slug": "arfgef3",
        "symbol": "ARFGEF3",
        "name": "ARFGEF family member 3",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/arfgef3"
      },
      {
        "slug": "atp1a3",
        "symbol": "ATP1A3",
        "name": "ATPase Na+/K+ transporting subunit alpha 3",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/atp1a3"
      },
      {
        "slug": "bcap31",
        "symbol": "BCAP31",
        "name": "B cell receptor associated protein 31",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/bcap31"
      },
      {
        "slug": "col6a3",
        "symbol": "COL6A3",
        "name": "collagen type VI alpha 3 chain",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/col6a3"
      },
      {
        "slug": "dcaf17",
        "symbol": "DCAF17",
        "name": "DDB1 and CUL4 associated factor 17",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/dcaf17"
      },
      {
        "slug": "gch1",
        "symbol": "GCH1",
        "name": "GTP cyclohydrolase 1",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/gch1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}