{
  "url": "https://dantelabs.com/nl/genes/kidins220",
  "gene": {
    "slug": "kidins220",
    "symbol": "KIDINS220",
    "name": "kinase D interacting substrate 220",
    "hgnc": "HGNC:29508",
    "summary": null,
    "location": "2p25.1",
    "locusType": "gene with protein product",
    "aliases": [
      "ARMS"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000134313",
    "entrezId": 57498,
    "omim": [
      "615759"
    ],
    "uniprot": [
      "Q9ULH0"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 8728858,
      "end": 8837613,
      "strand": "-",
      "ensemblTranscript": "ENST00000256707.8",
      "refseqTranscript": "NM_020738.4",
      "ensemblProtein": "ENSP00000256707.4",
      "refseqProtein": "NP_065789.1",
      "exons": [
        {
          "start": 8728858,
          "end": 8731982
        },
        {
          "start": 8733444,
          "end": 8733680
        },
        {
          "start": 8734655,
          "end": 8734753
        },
        {
          "start": 8736868,
          "end": 8736999
        },
        {
          "start": 8747145,
          "end": 8747201
        },
        {
          "start": 8747887,
          "end": 8748000
        },
        {
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        },
        {
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          "end": 8751644
        },
        {
          "start": 8770670,
          "end": 8770832
        },
        {
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        },
        {
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          "end": 8778727
        },
        {
          "start": 8778896,
          "end": 8779139
        },
        {
          "start": 8779674,
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        },
        {
          "start": 8785741,
          "end": 8786030
        },
        {
          "start": 8786206,
          "end": 8786357
        },
        {
          "start": 8788647,
          "end": 8788812
        },
        {
          "start": 8789880,
          "end": 8790059
        },
        {
          "start": 8791060,
          "end": 8791224
        },
        {
          "start": 8793810,
          "end": 8793987
        },
        {
          "start": 8796771,
          "end": 8796869
        },
        {
          "start": 8798202,
          "end": 8798300
        },
        {
          "start": 8800400,
          "end": 8800498
        },
        {
          "start": 8802930,
          "end": 8803127
        },
        {
          "start": 8806271,
          "end": 8806369
        },
        {
          "start": 8812395,
          "end": 8812493
        },
        {
          "start": 8813237,
          "end": 8813335
        },
        {
          "start": 8817618,
          "end": 8817716
        },
        {
          "start": 8818695,
          "end": 8818793
        },
        {
          "start": 8826986,
          "end": 8827129
        },
        {
          "start": 8837480,
          "end": 8837613
        }
      ],
      "cds": {
        "start": 8730720,
        "end": 8827093
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 8865408,
      "end": 8977760,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 8283236,
      "end": 9283235,
      "genes": [
        {
          "symbol": "ID2",
          "ensemblId": "ENSG00000115738",
          "biotype": "protein_coding",
          "start": 8678845,
          "end": 8684461,
          "strand": "+",
          "slug": "id2"
        },
        {
          "symbol": "MBOAT2",
          "ensemblId": "ENSG00000143797",
          "biotype": "protein_coding",
          "start": 8852473,
          "end": 9003859,
          "strand": "-",
          "slug": "mboat2"
        },
        {
          "symbol": "ASAP2",
          "ensemblId": "ENSG00000151693",
          "biotype": "protein_coding",
          "start": 9206602,
          "end": 9405683,
          "strand": "+",
          "slug": "asap2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "kidins220-ventriculomegaly-arthrogryposis",
        "name": "KIDINS220-gerelateerde ventriculomegalie en artrogryposis",
        "diseases": [
          {
            "mondoId": "MONDO:0859184",
            "name": "Ventriculomegalie en artrogryposis",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Veroorzaakt door veranderingen in beide kopieën van KIDINS220, een transmembraaneiwit in signaalroutes van zenuwcellen dat helpt de productie en afvoer van hersenvocht te reguleren. Een enkele nieuwe verandering in KIDINS220 veroorzaakt een andere aandoening, met spastische paraplegie, verstandelijke beperking, nystagmus en obesitas (SINO-syndroom).",
            "management": "Gespecialiseerde zorg door een foetale-geneeskundespecialist en counseling wanneer de aandoening tijdens de zwangerschap wordt vastgesteld. Ouders zijn meestal drager, dus dragerschapstesten voor familieleden, erfelijkheidsadvies en opties voor toekomstige zwangerschappen zijn beschikbaar.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/kidins220-ventriculomegaly-arthrogryposis"
      },
      {
        "slug": "hereditary-spastic-paraplegia",
        "name": "Erfelijke spastische paraplegie",
        "diseases": [
          {
            "mondoId": "MONDO:0019064",
            "name": "Hereditaire spastische paraplegie (alle typen)",
            "genes": 66,
            "inheritance": null,
            "description": "Overkoepelende term voor alle hereditaire spastische paraplegieën, waaronder SPG4 (SPAST), de meest voorkomende dominante vorm, en SPG5A, SPG6, SPG10, SPG18, SPG30 en SPG31.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/hereditary-spastic-paraplegia"
      },
      {
        "slug": "inherited-neurodegenerative-disorders-selected-genes",
        "name": "Erfelijke neurodegeneratieve aandoeningen",
        "diseases": [
          {
            "mondoId": "MONDO:0024237",
            "name": "Met KIF5A samenhangende neurodegeneratieve aandoening",
            "genes": 372,
            "inheritance": "autosomal-dominant",
            "description": "Veroorzaakt door veranderingen in één kopie van KIF5A, een motoreiwit met een staart die vracht bindt. Verschillende soorten veranderingen leiden tot verschillende aandoeningen: hereditaire spastische paraplegie type 10, een axonale vorm van de ziekte van Charcot-Marie-Tooth en amyotrofe laterale sclerose (ALS).",
            "management": "De zorg is symptomatisch en hangt af van het ziektebeeld; zij omvat fysiotherapie, medicijnen tegen spasticiteit en multidisciplinaire ALS-zorg. Elk kind van een aangedane persoon heeft een kans van 1 op 2 om de verandering te erven; erfelijkheidsadvies helpt gezinnen dit te begrijpen.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/inherited-neurodegenerative-disorders-selected-genes"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-cns-myelination",
        "name": "Abnormal CNS myelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-cns-myelination"
      },
      {
        "slug": "agenesis-of-corpus-callosum",
        "name": "Agenesis of corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/agenesis-of-corpus-callosum"
      },
      {
        "slug": "arthrogryposis-multiplex-congenita",
        "name": "Arthrogryposis multiplex congenita",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/arthrogryposis-multiplex-congenita"
      },
      {
        "slug": "astigmatism",
        "name": "Astigmatism",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/astigmatism"
      },
      {
        "slug": "plagiocephaly",
        "name": "Asymmetry of the posterior head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/plagiocephaly"
      },
      {
        "slug": "brachycephaly",
        "name": "Broad head shape",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/brachycephaly"
      },
      {
        "slug": "talipes-equinovarus",
        "name": "Club feet",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/talipes-equinovarus"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "reduced-visual-acuity",
        "name": "Decreased clarity of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reduced-visual-acuity"
      },
      {
        "slug": "deeply-set-eye",
        "name": "Deeply set eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/deeply-set-eye"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "delayed-ability-to-stand",
        "name": "Delayed ability to stand",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-ability-to-stand"
      },
      {
        "slug": "delayed-cns-myelination",
        "name": "Delayed CNS myelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-cns-myelination"
      },
      {
        "slug": "delayed-gross-motor-development",
        "name": "Delayed motor skills",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-gross-motor-development"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "dental-crowding",
        "name": "Dental crowding",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dental-crowding"
      },
      {
        "slug": "dilated-third-ventricle",
        "name": "Dilated third ventricle",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dilated-third-ventricle"
      },
      {
        "slug": "esophoria",
        "name": "Esophoria",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/esophoria"
      },
      {
        "slug": "hypermetropia",
        "name": "Farsightedness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypermetropia"
      },
      {
        "slug": "frontal-bossing",
        "name": "Frontal bossing",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/frontal-bossing"
      },
      {
        "slug": "full-cheeks",
        "name": "Full cheeks",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/full-cheeks"
      },
      {
        "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": "hand-clenching",
        "name": "Hand clenching",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hand-clenching"
      },
      {
        "slug": "polyhydramnios",
        "name": "High levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/polyhydramnios"
      },
      {
        "slug": "limb-hypertonia",
        "name": "Increased muscle tone of arm or leg",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/limb-hypertonia"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "esotropia",
        "name": "Inward turning cross eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/esotropia"
      },
      {
        "slug": "lateral-ventricle-dilatation",
        "name": "Lateral ventricle dilatation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lateral-ventricle-dilatation"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "axial-hypotonia",
        "name": "Low muscle tone in trunk",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/axial-hypotonia"
      },
      {
        "slug": "lower-limb-hypertonia",
        "name": "Lower limb hypertonia",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lower-limb-hypertonia"
      },
      {
        "slug": "obesity",
        "name": "Obesity",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/obesity"
      },
      {
        "slug": "optic-nerve-dysplasia",
        "name": "Optic nerve dysplasia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/optic-nerve-dysplasia"
      },
      {
        "slug": "partial-agenesis-of-the-corpus-callosum",
        "name": "Partial agenesis of the corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/partial-agenesis-of-the-corpus-callosum"
      },
      {
        "slug": "progressive-spastic-paraplegia",
        "name": "Progressive spastic paraplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/progressive-spastic-paraplegia"
      },
      {
        "slug": "prominent-forehead",
        "name": "Prominent forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/prominent-forehead"
      },
      {
        "slug": "short-philtrum",
        "name": "Short philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-philtrum"
      },
      {
        "slug": "cerebellar-hypoplasia",
        "name": "Small cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebellar-hypoplasia"
      },
      {
        "slug": "spastic-paraplegia",
        "name": "Spastic paraplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/spastic-paraplegia"
      },
      {
        "slug": "spastic-gait",
        "name": "Spastic walk",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/spastic-gait"
      },
      {
        "slug": "tip-toe-gait",
        "name": "Toe walking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/tip-toe-gait"
      },
      {
        "slug": "ulnar-deviation-of-the-wrist",
        "name": "Ulnar deviation of the wrist",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ulnar-deviation-of-the-wrist"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      }
    ],
    "related": [
      {
        "slug": "abcd1",
        "symbol": "ABCD1",
        "name": "ATP binding cassette subfamily D member 1",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/abcd1"
      },
      {
        "slug": "abhd16a",
        "symbol": "ABHD16A",
        "name": "abhydrolase domain containing 16A, phospholipase",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/abhd16a"
      },
      {
        "slug": "aldh18a1",
        "symbol": "ALDH18A1",
        "name": "aldehyde dehydrogenase 18 family member A1",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/aldh18a1"
      },
      {
        "slug": "amfr",
        "symbol": "AMFR",
        "name": "autocrine motility factor receptor",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/amfr"
      },
      {
        "slug": "ap4b1",
        "symbol": "AP4B1",
        "name": "adaptor related protein complex 4 subunit beta 1",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/ap4b1"
      },
      {
        "slug": "ap4e1",
        "symbol": "AP4E1",
        "name": "adaptor related protein complex 4 subunit epsilon 1",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/ap4e1"
      },
      {
        "slug": "ap4m1",
        "symbol": "AP4M1",
        "name": "adaptor related protein complex 4 subunit mu 1",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/ap4m1"
      },
      {
        "slug": "ap4s1",
        "symbol": "AP4S1",
        "name": "adaptor related protein complex 4 subunit sigma 1",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/ap4s1"
      },
      {
        "slug": "ap5z1",
        "symbol": "AP5Z1",
        "name": "adaptor related protein complex 5 subunit zeta 1",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/ap5z1"
      },
      {
        "slug": "arl6ip1",
        "symbol": "ARL6IP1",
        "name": "ARL6 interacting reticulophagy regulator 1",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/arl6ip1"
      },
      {
        "slug": "atl1",
        "symbol": "ATL1",
        "name": "atlastin GTPase 1",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/atl1"
      },
      {
        "slug": "atp13a2",
        "symbol": "ATP13A2",
        "name": "ATPase cation transporting 13A2",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/atp13a2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}