{ "url": "https://dantelabs.com/pt/genes/kitlg", "gene": { "slug": "kitlg", "symbol": "KITLG", "name": "KIT ligand", "hgnc": "HGNC:6343", "summary": null, "location": "12q21.32", "locusType": "gene with protein product", "aliases": [ "SCF", "SF", "Kitl", "KL-1", "FPH2", "SLF", "DFNA69" ], "previousSymbols": [ "MGF" ], "ensemblId": "ENSG00000049130", "entrezId": 4254, "omim": [ "184745" ], "uniprot": [ "P21583" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "12", "start": 88492793, "end": 88580471, "strand": "-", "ensemblTranscript": "ENST00000644744.1", "refseqTranscript": "NM_000899.5", "ensemblProtein": "ENSP00000495951.1", "refseqProtein": "NP_000890.1", "exons": [ { "start": 88492793, "end": 88497181 }, { "start": 88505159, "end": 88505235 }, { "start": 88506311, "end": 88506378 }, { "start": 88507028, "end": 88507137 }, { "start": 88515534, "end": 88515617 }, { "start": 88516334, "end": 88516490 }, { "start": 88518697, "end": 88518867 }, { "start": 88532441, "end": 88532503 }, { "start": 88545752, "end": 88545865 }, { "start": 88580264, "end": 88580471 } ], "cds": { "start": 88505196, "end": 88580278 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "12", "start": 88886570, "end": 88974628, "strand": "-" }, "neighbourhood": { "release": "116", "start": 88036632, "end": 89036631, "genes": [ { "symbol": "RLIG1", "ensemblId": "ENSG00000133641", "biotype": "protein_coding", "start": 88033846, "end": 88050160, "strand": "+", "slug": "rlig1" }, { "symbol": "CEP290", "ensemblId": "ENSG00000198707", "biotype": "protein_coding", "start": 88049016, "end": 88142099, "strand": "-", "slug": "cep290" }, { "symbol": "TMTC3", "ensemblId": "ENSG00000139324", "biotype": "protein_coding", "start": 88142181, "end": 88199887, "strand": "+", "slug": "tmtc3" } ], "truncated": false }, "reports": [ { "slug": "hearing-loss-and-deafness", "name": "Perda Auditiva e Surdez", "diseases": [ { "mondoId": "MONDO:0019587", "name": "Perda Auditiva Não Sindrómica Autossómica Dominante", "genes": 39, "inheritance": "autosomal-dominant", "description": "Forma autossómica dominante de surdez não sindrómica.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0019497", "name": "Perda Auditiva Genética Não Sindrómica", "genes": 97, "inheritance": null, "description": "Perda auditiva hereditária sem outras manifestações clínicas, incluindo as formas recessivas mais comuns causadas por GJB2, OTOF, SLC26A4, STRC e muitos outros genes, bem como as formas dominantes, ligadas ao cromossoma X e mitocondriais.", "management": "Conhecer a causa genética pode orientar o apoio auditivo e as decisões sobre implante coclear, a elegibilidade para ensaios de terapia genética (por exemplo, OTOF) e o aconselhamento familiar.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/pt/conditions/hearing-loss-and-deafness" }, { "slug": "waardenburg-shah-syndrome", "name": "Síndrome de Waardenburg", "diseases": [ { "mondoId": "MONDO:0018094", "name": "Síndrome de Waardenburg", "genes": 7, "inheritance": null, "description": "Um grupo de doenças (tipos 1 a 4) que causam perda de audição e alterações da pigmentação do cabelo, da pele e dos olhos, provocadas por genes como PAX3, MITF, SOX10, EDNRB e EDN3.", "management": null, "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/pt/conditions/waardenburg-shah-syndrome" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormality-of-the-pulmonary-artery", "name": "Abnormality of lung artery", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-pulmonary-artery" }, { "slug": "abnormality-of-the-kidney", "name": "Abnormality of the kidney", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-kidney" }, { "slug": "cafe-au-lait-spot", "name": "Birthmark", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cafe-au-lait-spot" }, { "slug": "vitiligo", "name": "Blotchy loss of skin color", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/vitiligo" }, { "slug": "blue-irides", "name": "Blue eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/blue-irides" }, { "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": "telecanthus", "name": "Corners of eye widely separated", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/telecanthus" }, { "slug": "heterochromia-iridis", "name": "Different colored eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/heterochromia-iridis" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "aganglionic-megacolon", "name": "Enlarged colon lacking nerve cells", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aganglionic-megacolon" }, { "slug": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hearing-impairment" }, { "slug": "hyperkeratosis", "name": "Hyperkeratosis", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/hyperkeratosis" }, { "slug": "hypermelanotic-macule", "name": "Hyperpigmented skin patches", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypermelanotic-macule" }, { "slug": "multiple-lentigines", "name": "Liver spots", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/multiple-lentigines" }, { "slug": "hypopigmentation-of-hair", "name": "Loss of hair color", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypopigmentation-of-hair" }, { "slug": "hypopigmentation-of-the-skin", "name": "Patchy lightened skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypopigmentation-of-the-skin" }, { "slug": "hypopigmented-skin-patches", "name": "Patchy loss of skin color", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypopigmented-skin-patches" }, { "slug": "premature-graying-of-hair", "name": "Premature graying of hair", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/premature-graying-of-hair" }, { "slug": "progressive-hyperpigmentation", "name": "Progressive hyperpigmentation", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/progressive-hyperpigmentation" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "white-hair", "name": "White hair", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/white-hair" }, { "slug": "white-forelock", "name": "White part of hair above forehead", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/white-forelock" } ], "related": [ { "slug": "actg1", "symbol": "ACTG1", "name": "actin gamma 1", "shared": 2, "url": "https://dantelabs.com/pt/genes/actg1" }, { "slug": "atp11a", "symbol": "ATP11A", "name": "ATPase phospholipid transporting 11A", "shared": 2, "url": "https://dantelabs.com/pt/genes/atp11a" }, { "slug": "atp2b2", "symbol": "ATP2B2", "name": "ATPase plasma membrane Ca2+ transporting 2", "shared": 2, "url": "https://dantelabs.com/pt/genes/atp2b2" }, { "slug": "cd164", "symbol": "CD164", "name": "CD164 molecule", "shared": 2, "url": "https://dantelabs.com/pt/genes/cd164" }, { "slug": "ceacam16", "symbol": "CEACAM16", "name": "CEA cell adhesion molecule 16, tectorial membrane component", "shared": 2, "url": "https://dantelabs.com/pt/genes/ceacam16" }, { "slug": "coch", "symbol": "COCH", "name": "cochlin", "shared": 2, "url": "https://dantelabs.com/pt/genes/coch" }, { "slug": "col11a1", "symbol": "COL11A1", "name": "collagen type XI alpha 1 chain", "shared": 2, "url": "https://dantelabs.com/pt/genes/col11a1" }, { "slug": "col11a2", "symbol": "COL11A2", "name": "collagen type XI alpha 2 chain", "shared": 2, "url": "https://dantelabs.com/pt/genes/col11a2" }, { "slug": "diaph1", "symbol": "DIAPH1", "name": "diaphanous related formin 1", "shared": 2, "url": "https://dantelabs.com/pt/genes/diaph1" }, { "slug": "eya4", "symbol": "EYA4", "name": "EYA transcriptional coactivator and phosphatase 4", "shared": 2, "url": "https://dantelabs.com/pt/genes/eya4" }, { "slug": "gjb2", "symbol": "GJB2", "name": "gap junction protein beta 2", "shared": 2, "url": "https://dantelabs.com/pt/genes/gjb2" }, { "slug": "gjb6", "symbol": "GJB6", "name": "gap junction protein beta 6", "shared": 2, "url": "https://dantelabs.com/pt/genes/gjb6" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }