{
  "url": "https://dantelabs.com/ro/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
        },
        {
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          "end": 8770832
        },
        {
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          "end": 8776892
        },
        {
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          "end": 8778727
        },
        {
          "start": 8778896,
          "end": 8779139
        },
        {
          "start": 8779674,
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        },
        {
          "start": 8785741,
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        },
        {
          "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": "Ventriculomegalie și artrogripoză asociate cu KIDINS220",
        "diseases": [
          {
            "mondoId": "MONDO:0859184",
            "name": "Ventriculomegalie și artrogripoză",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Cauzată de modificări ale ambelor copii ale genei KIDINS220, o proteină transmembranară din căile de semnalizare neuronală, care contribuie la reglarea lichidului cefalorahidian. O singură modificare nouă a genei KIDINS220 provoacă o afecțiune diferită, cu paraplegie spastică, deficiență intelectuală, nistagmus și obezitate (sindromul SINO).",
            "management": "Îngrijire specializată în medicină fetală și consiliere atunci când afecțiunea este depistată în timpul sarcinii. Părinții sunt, de regulă, purtători, astfel încât sunt disponibile testarea de purtător pentru rude, consilierea genetică și opțiunile pentru sarcinile viitoare.",
            "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/ro/conditions/kidins220-ventriculomegaly-arthrogryposis"
      },
      {
        "slug": "hereditary-spastic-paraplegia",
        "name": "Paraplegie spastică ereditară",
        "diseases": [
          {
            "mondoId": "MONDO:0019064",
            "name": "Paraplegia spastică ereditară (toate tipurile)",
            "genes": 66,
            "inheritance": null,
            "description": "Termen generic care cuprinde toate formele de paraplegie spastică ereditară, inclusiv SPG4 (SPAST), cea mai frecventă formă dominantă, precum și SPG5A, SPG6, SPG10, SPG18, SPG30 și 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/ro/conditions/hereditary-spastic-paraplegia"
      },
      {
        "slug": "inherited-neurodegenerative-disorders-selected-genes",
        "name": "Tulburări neurodegenerative ereditare",
        "diseases": [
          {
            "mondoId": "MONDO:0024237",
            "name": "Tulburare neurodegenerativă asociată cu KIF5A",
            "genes": 372,
            "inheritance": "autosomal-dominant",
            "description": "Cauzată de modificări ale unei copii a genei KIF5A, care codifică o proteină motorie cu o coadă de legare a cargoului. Diferite tipuri de modificări duc la afecțiuni diferite: paraplegie spastică ereditară de tip 10, o formă axonală a bolii Charcot-Marie-Tooth și scleroza laterală amiotrofică (SLA).",
            "management": "Tratamentul este simptomatic și depinde de manifestări, incluzând kinetoterapie, medicamente antispastice și îngrijire multidisciplinară pentru SLA. Fiecare copil al unei persoane afectate are o șansă de 1 din 2 de a moșteni modificarea; consilierea genetică ajută familiile să înțeleagă acest lucru.",
            "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/ro/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/ro/genes/abcd1"
      },
      {
        "slug": "abhd16a",
        "symbol": "ABHD16A",
        "name": "abhydrolase domain containing 16A, phospholipase",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/abhd16a"
      },
      {
        "slug": "aldh18a1",
        "symbol": "ALDH18A1",
        "name": "aldehyde dehydrogenase 18 family member A1",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/aldh18a1"
      },
      {
        "slug": "amfr",
        "symbol": "AMFR",
        "name": "autocrine motility factor receptor",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/amfr"
      },
      {
        "slug": "ap4b1",
        "symbol": "AP4B1",
        "name": "adaptor related protein complex 4 subunit beta 1",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/ap4b1"
      },
      {
        "slug": "ap4e1",
        "symbol": "AP4E1",
        "name": "adaptor related protein complex 4 subunit epsilon 1",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/ap4e1"
      },
      {
        "slug": "ap4m1",
        "symbol": "AP4M1",
        "name": "adaptor related protein complex 4 subunit mu 1",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/ap4m1"
      },
      {
        "slug": "ap4s1",
        "symbol": "AP4S1",
        "name": "adaptor related protein complex 4 subunit sigma 1",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/ap4s1"
      },
      {
        "slug": "ap5z1",
        "symbol": "AP5Z1",
        "name": "adaptor related protein complex 5 subunit zeta 1",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/ap5z1"
      },
      {
        "slug": "arl6ip1",
        "symbol": "ARL6IP1",
        "name": "ARL6 interacting reticulophagy regulator 1",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/arl6ip1"
      },
      {
        "slug": "atl1",
        "symbol": "ATL1",
        "name": "atlastin GTPase 1",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/atl1"
      },
      {
        "slug": "atp13a2",
        "symbol": "ATP13A2",
        "name": "ATPase cation transporting 13A2",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/atp13a2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}