{
  "url": "https://dantelabs.com/cs/genes/kmt5b",
  "gene": {
    "slug": "kmt5b",
    "symbol": "KMT5B",
    "name": "lysine methyltransferase 5B",
    "hgnc": "HGNC:24283",
    "summary": null,
    "location": "11q13.2",
    "locusType": "gene with protein product",
    "aliases": [
      "CGI-85"
    ],
    "previousSymbols": [
      "SUV420H1"
    ],
    "ensemblId": "ENSG00000110066",
    "entrezId": 51111,
    "omim": [
      "610881"
    ],
    "uniprot": [
      "Q4FZB7"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "11",
      "start": 68154863,
      "end": 68213296,
      "strand": "-",
      "ensemblTranscript": "ENST00000304363.9",
      "refseqTranscript": "NM_017635.5",
      "ensemblProtein": "ENSP00000305899.4",
      "refseqProtein": "NP_060105.3",
      "exons": [
        {
          "start": 68154863,
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        },
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        },
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        }
      ],
      "cds": {
        "start": 68157688,
        "end": 68190076
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "11",
      "start": 67922330,
      "end": 67981295,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
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      "end": 68684079,
      "genes": [
        {
          "symbol": "UNC93B1",
          "ensemblId": "ENSG00000110057",
          "biotype": "protein_coding",
          "start": 67991100,
          "end": 68004982,
          "strand": "-",
          "slug": "unc93b1"
        },
        {
          "symbol": "ALDH3B1",
          "ensemblId": "ENSG00000006534",
          "biotype": "protein_coding",
          "start": 68008543,
          "end": 68029282,
          "strand": "+",
          "slug": "aldh3b1"
        },
        {
          "symbol": "NDUFS8",
          "ensemblId": "ENSG00000110717",
          "biotype": "protein_coding",
          "start": 68030617,
          "end": 68036649,
          "strand": "+",
          "slug": "ndufs8"
        },
        {
          "symbol": "TCIRG1",
          "ensemblId": "ENSG00000110719",
          "biotype": "protein_coding",
          "start": 68038977,
          "end": 68050899,
          "strand": "+",
          "slug": "tcirg1"
        },
        {
          "symbol": "CHKA",
          "ensemblId": "ENSG00000110721",
          "biotype": "protein_coding",
          "start": 68052848,
          "end": 68121449,
          "strand": "-",
          "slug": "chka"
        },
        {
          "symbol": "C11orf24",
          "ensemblId": "ENSG00000171067",
          "biotype": "protein_coding",
          "start": 68261335,
          "end": 68272001,
          "strand": "-",
          "slug": "c11orf24"
        },
        {
          "symbol": "LRP5",
          "ensemblId": "ENSG00000162337",
          "biotype": "protein_coding",
          "start": 68312430,
          "end": 68449275,
          "strand": "+",
          "slug": "lrp5"
        },
        {
          "symbol": "PPP6R3",
          "ensemblId": "ENSG00000110075",
          "biotype": "protein_coding",
          "start": 68460475,
          "end": 68615343,
          "strand": "+",
          "slug": "ppp6r3"
        },
        {
          "symbol": "GAL",
          "ensemblId": "ENSG00000069482",
          "biotype": "protein_coding",
          "start": 68683020,
          "end": 68691205,
          "strand": "+",
          "slug": "gal"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "intellectual-disability",
        "name": "Intellectual Disability",
        "diseases": [
          {
            "mondoId": "MONDO:0001071",
            "name": "intellectual disability",
            "genes": 233,
            "inheritance": null,
            "description": null,
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Illumina",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/cs/conditions/intellectual-disability"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "absent-speech",
        "name": "Absent speech development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/absent-speech"
      },
      {
        "slug": "aggressive-behavior",
        "name": "Aggressive behavior",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aggressive-behavior"
      },
      {
        "slug": "attention-deficit-hyperactivity-disorder",
        "name": "Attention deficit",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/attention-deficit-hyperactivity-disorder"
      },
      {
        "slug": "autistic-behavior",
        "name": "Autism spectrum disorder",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/autistic-behavior"
      },
      {
        "slug": "macrocephaly",
        "name": "Big calvaria",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/macrocephaly"
      },
      {
        "slug": "chronic-constipation",
        "name": "Chronic constipation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chronic-constipation"
      },
      {
        "slug": "chronic-diarrhea",
        "name": "Chronic diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chronic-diarrhea"
      },
      {
        "slug": "talipes-equinovarus",
        "name": "Club feet",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/talipes-equinovarus"
      },
      {
        "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": "sleep-onset-insomnia",
        "name": "Difficulty falling asleep",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sleep-onset-insomnia"
      },
      {
        "slug": "dilation-of-virchow-robin-spaces",
        "name": "Dilation of Virchow-Robin spaces",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dilation-of-virchow-robin-spaces"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "febrile-seizure-within-the-age-range-of-3-months-to-6-years",
        "name": "Febrile seizure (within the age range of 3 months to 6 years)",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/febrile-seizure-within-the-age-range-of-3-months-to-6-years"
      },
      {
        "slug": "febrile-seizure-outside-the-age-of-3-months-to-6-years",
        "name": "Febrile seizure outside the age of 3 months to 6 years",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/febrile-seizure-outside-the-age-of-3-months-to-6-years"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "fixated-interests",
        "name": "Fixated interests",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fixated-interests"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "high-forehead",
        "name": "High forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/high-forehead"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "sparse-lateral-eyebrow",
        "name": "Limited hair on end of eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sparse-lateral-eyebrow"
      },
      {
        "slug": "long-foot",
        "name": "Long foot",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/long-foot"
      },
      {
        "slug": "long-toe",
        "name": "Long toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/long-toe"
      },
      {
        "slug": "low-hanging-columella",
        "name": "Low hanging columella",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/low-hanging-columella"
      },
      {
        "slug": "poor-suck",
        "name": "Poor suck",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/poor-suck"
      },
      {
        "slug": "recurrent-hand-flapping",
        "name": "Recurrent hand flapping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-hand-flapping"
      },
      {
        "slug": "recurrent-otitis-media",
        "name": "Recurrent middle ear infection",
        "systems": [
          "abnormality-of-the-ear",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-otitis-media"
      },
      {
        "slug": "tics",
        "name": "Tic disorder",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tics"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "unilateral-cryptorchidism",
        "name": "Unilateral cryptorchidism",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/unilateral-cryptorchidism"
      },
      {
        "slug": "use-of-another-person-s-body-to-communicate",
        "name": "Use of another person's body to communicate",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/use-of-another-person-s-body-to-communicate"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      },
      {
        "slug": "wide-nasal-base",
        "name": "Wide nasal base",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/wide-nasal-base"
      },
      {
        "slug": "wide-nasal-bridge",
        "name": "Wide nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/wide-nasal-bridge"
      }
    ],
    "related": [
      {
        "slug": "acsl4",
        "symbol": "ACSL4",
        "name": "acyl-CoA synthetase long chain family member 4",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/acsl4"
      },
      {
        "slug": "adk",
        "symbol": "ADK",
        "name": "adenosine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/adk"
      },
      {
        "slug": "adnp",
        "symbol": "ADNP",
        "name": "activity dependent neuroprotector homeobox",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/adnp"
      },
      {
        "slug": "aff2",
        "symbol": "AFF2",
        "name": "ALF transcription elongation factor 2",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/aff2"
      },
      {
        "slug": "ahdc1",
        "symbol": "AHDC1",
        "name": "AT-hook DNA binding motif containing 1",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/ahdc1"
      },
      {
        "slug": "alkbh8",
        "symbol": "ALKBH8",
        "name": "alkB homolog 8, tRNA methyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/alkbh8"
      },
      {
        "slug": "ank3",
        "symbol": "ANK3",
        "name": "ankyrin 3",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/ank3"
      },
      {
        "slug": "ankrd11",
        "symbol": "ANKRD11",
        "name": "ankyrin repeat domain 11",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/ankrd11"
      },
      {
        "slug": "ap1s2",
        "symbol": "AP1S2",
        "name": "adaptor related protein complex 1 subunit sigma 2",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/ap1s2"
      },
      {
        "slug": "ap2m1",
        "symbol": "AP2M1",
        "name": "adaptor related protein complex 2 subunit mu 1",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/ap2m1"
      },
      {
        "slug": "arhgef9",
        "symbol": "ARHGEF9",
        "name": "Cdc42 guanine nucleotide exchange factor 9",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/arhgef9"
      },
      {
        "slug": "arid1a",
        "symbol": "ARID1A",
        "name": "AT-rich interaction domain 1A",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/arid1a"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}