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"ENSG00000272804", "biotype": "protein_coding", "start": 44600597, "end": 44602174, "strand": "+", "slug": "krtap10-7" }, { "symbol": "KRTAP10-8", "ensemblId": "ENSG00000187766", "biotype": "protein_coding", "start": 44612079, "end": 44612954, "strand": "+", "slug": "krtap10-8" }, { "symbol": "KRTAP10-9", "ensemblId": "ENSG00000221837", "biotype": "protein_coding", "start": 44627093, "end": 44628378, "strand": "+", "slug": "krtap10-9" }, { "symbol": "KRTAP10-10", "ensemblId": "ENSG00000221859", "biotype": "protein_coding", "start": 44637356, "end": 44638455, "strand": "+", "slug": "krtap10-10" }, { "symbol": "KRTAP10-11", "ensemblId": "ENSG00000243489", "biotype": "protein_coding", "start": 44646414, "end": 44647650, "strand": "+", "slug": "krtap10-11" }, { "symbol": "KRTAP12-4", "ensemblId": "ENSG00000212933", "biotype": "protein_coding", "start": 44654213, "end": 44654659, "strand": "-", "slug": "krtap12-4" }, { "symbol": "KRTAP12-3", "ensemblId": "ENSG00000205439", "biotype": "protein_coding", "start": 44657932, "end": 44658341, "strand": "+", "slug": "krtap12-3" }, { "symbol": "KRTAP12-2", "ensemblId": "ENSG00000221864", "biotype": "protein_coding", "start": 44666189, "end": 44666927, "strand": "-", "slug": "krtap12-2" }, { "symbol": "KRTAP12-1", "ensemblId": "ENSG00000187175", "biotype": "protein_coding", "start": 44681576, "end": 44682163, "strand": "-", "slug": "krtap12-1" }, { "symbol": "KRTAP10-12", "ensemblId": "ENSG00000189169", "biotype": "protein_coding", "start": 44697172, "end": 44698044, "strand": "+", "slug": "krtap10-12" }, { "symbol": "UBE2G2", "ensemblId": "ENSG00000184787", "biotype": "protein_coding", "start": 44768580, "end": 44801826, "strand": "-", "slug": "ube2g2" }, { "symbol": "SUMO3", "ensemblId": "ENSG00000184900", "biotype": "protein_coding", "start": 44805604, "end": 44818779, "strand": "-", "slug": "sumo3" }, { "symbol": "PTTG1IP", "ensemblId": "ENSG00000183255", "biotype": "protein_coding", "start": 44849585, "end": 44873903, "strand": "-", "slug": "pttg1ip" }, { "symbol": "ITGB2", "ensemblId": "ENSG00000160255", "biotype": "protein_coding", "start": 44885948, "end": 44932079, "strand": "-", "slug": "itgb2" }, { "symbol": "SLX9", "ensemblId": "ENSG00000160256", "biotype": "protein_coding", "start": 44939938, "end": 44977014, "strand": "+", "slug": "slx9" }, { "symbol": "ADARB1", "ensemblId": "ENSG00000197381", "biotype": "protein_coding", "start": 45073839, "end": 45226560, "strand": "+", "slug": "adarb1" } ], "truncated": false }, "reports": [ { "slug": "ectodermal-dysplasias", "name": "Ectodermal Dysplasias", "diseases": [ { "mondoId": "MONDO:0032584", "name": "Ectodermal dysplasia 14, hair/tooth type", "genes": 1, "inheritance": "autosomal-recessive", "description": "A TSPEAR disorder with missing teeth and sparse hair, sometimes with reduced sweating.", "management": null, "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/hu/conditions/ectodermal-dysplasias" }, { "slug": "hypodontia-and-anodontia", "name": "Hypodontia and Anodontia", "diseases": [ { "mondoId": "MONDO:0005486", "name": "Tooth Agenesis (Hypodontia)", "genes": 7, "inheritance": null, "description": null, "management": null, "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/hu/conditions/hypodontia-and-anodontia" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "conical-tooth", "name": "Cone shaped tooth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/conical-tooth" }, { "slug": "hypohidrosis", "name": "Decreased ability to sweat", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypohidrosis" }, { "slug": "downslanted-palpebral-fissures", "name": "Downward slanting of the opening between the eyelids", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures" }, { "slug": "hypodontia", "name": "Failure of development of between one and six teeth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypodontia" }, { "slug": "oligodontia", "name": "Failure of development of more than six teeth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/oligodontia" }, { "slug": "thick-vermilion-border", "name": "Full lips", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/thick-vermilion-border" }, { "slug": "high-palate", "name": "High palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/high-palate" }, { "slug": "low-insertion-of-columella", "name": "Low insertion of columella", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/low-insertion-of-columella" }, { "slug": "low-set-ears", "name": "Low-set ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/low-set-ears" }, { "slug": "narrow-forehead", "name": "Narrow forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/narrow-forehead" }, { "slug": "oval-face", "name": "Oval face", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/oval-face" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "sparse-scalp-hair", "name": "Sparse scalp hair", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sparse-scalp-hair" } ], "related": [ { "slug": "eda", "symbol": "EDA", "name": "ectodysplasin A", "shared": 1, "url": "https://dantelabs.com/hu/genes/eda" }, { "slug": "lrp6", "symbol": "LRP6", "name": "LDL receptor related protein 6", "shared": 1, "url": "https://dantelabs.com/hu/genes/lrp6" }, { "slug": "msx1", "symbol": "MSX1", "name": "msh homeobox 1", "shared": 1, "url": "https://dantelabs.com/hu/genes/msx1" }, { "slug": "pax9", "symbol": "PAX9", "name": "paired box 9", "shared": 1, "url": "https://dantelabs.com/hu/genes/pax9" }, { "slug": "wnt10a", "symbol": "WNT10A", "name": "Wnt family member 10A", "shared": 1, "url": "https://dantelabs.com/hu/genes/wnt10a" }, { "slug": "wnt10b", "symbol": "WNT10B", "name": "Wnt family member 10B", "shared": 1, "url": "https://dantelabs.com/hu/genes/wnt10b" } ], "sources": { "bundleId": "2026.10.18-8b139e39", "panel": "2026-10-18", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }