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"symbol": "GYS1", "ensemblId": "ENSG00000104812", "biotype": "protein_coding", "start": 48968125, "end": 48993349, "strand": "-", "slug": "gys1" }, { "symbol": "RUVBL2", "ensemblId": "ENSG00000183207", "biotype": "protein_coding", "start": 48993476, "end": 49017868, "strand": "+", "slug": "ruvbl2" }, { "symbol": "LHB", "ensemblId": "ENSG00000104826", "biotype": "protein_coding", "start": 49015980, "end": 49017091, "strand": "-", "slug": "lhb" }, { "symbol": "SAXO3", "ensemblId": "ENSG00000268655", "biotype": "protein_coding", "start": 49017968, "end": 49020549, "strand": "-", "slug": "saxo3" }, { "symbol": "CGB3", "ensemblId": "ENSG00000104827", "biotype": "protein_coding", "start": 49022869, "end": 49024360, "strand": "-", "slug": "cgb3" }, { "symbol": "", "ensemblId": "ENSG00000267335", "biotype": "protein_coding", "start": 49022953, "end": 49036895, "strand": "-" }, { "symbol": "CGB2", "ensemblId": "ENSG00000104818", "biotype": "protein_coding", "start": 49031890, "end": 49033238, "strand": "+", "slug": "cgb2" }, { "symbol": "CGB1", "ensemblId": "ENSG00000267631", "biotype": "protein_coding", "start": 49035569, "end": 49036895, "strand": "-", "slug": "cgb1" }, { "symbol": "CGB5", "ensemblId": "ENSG00000189052", "biotype": "protein_coding", "start": 49043595, "end": 49045312, "strand": "+", "slug": "cgb5" }, { "symbol": "CGB8", "ensemblId": "ENSG00000213030", "biotype": "protein_coding", "start": 49047638, "end": 49049125, "strand": "-", "slug": "cgb8" }, { "symbol": "CGB7", "ensemblId": "ENSG00000196337", "biotype": "protein_coding", "start": 49054274, "end": 49058860, "strand": "-", "slug": "cgb7" }, { "symbol": "", "ensemblId": "ENSG00000283663", "biotype": "protein_coding", "start": 49055793, "end": 49065076, "strand": "-" }, { "symbol": "NTF4", "ensemblId": "ENSG00000225950", "biotype": "protein_coding", "start": 49061066, "end": 49065076, "strand": "-", "slug": "ntf4" }, { "symbol": "KCNA7", "ensemblId": "ENSG00000104848", "biotype": "protein_coding", "start": 49067397, "end": 49072702, "strand": "-", "slug": "kcna7" } ], "truncated": false }, "reports": [ { "slug": "inherited-ichthyoses", "name": "Ärftliga ichtyoser", "diseases": [ { "mondoId": "MONDO:0017265", "name": "Autosomalt recessiv medfödd ichtyos", "genes": 15, "inheritance": "autosomal-recessive", "description": "En grupp recessiva ichtyoser, bland annat harlekinichtyos och lamellär ichtyos, som vanligtvis syns redan vid födseln, ofta med en kollodionhinna.", "management": "Tidig diagnos styr vården av nyfödda, behandling med emolliens och keratolytika samt försiktighetsåtgärder vid värmekänslighet.", "evidence": { "gencc": [ "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/sv/conditions/inherited-ichthyoses" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-helix-morphology", "name": "Abnormal helix morphology", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-helix-morphology" }, { "slug": "abnormal-nail-morphology", "name": "Abnormality of the nail", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-nail-morphology" }, { "slug": "amniotic-constriction-ring", "name": "Amniotic constriction ring", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/amniotic-constriction-ring" }, { "slug": "keratoconus", "name": "Bulging cornea", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/keratoconus" }, { "slug": "chronic-irritative-conjunctivitis", "name": "Chronic irritative conjunctivitis", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-eye", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/chronic-irritative-conjunctivitis" }, { "slug": "cicatricial-ectropion", "name": "Cicatricial ectropion", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cicatricial-ectropion" }, { "slug": "cataract", "name": "Clouding of the lens of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/cataract" }, { "slug": "conductive-hearing-impairment", "name": "Conductive deafness", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/conductive-hearing-impairment" }, { "slug": "congenital-nonbullous-ichthyosiform-erythroderma", "name": "Congenital nonbullous ichthyosiform erythroderma", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/congenital-nonbullous-ichthyosiform-erythroderma" }, { "slug": "keratitis", "name": "Corneal inflammation", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/keratitis" }, { "slug": "corneal-perforation", "name": "Corneal perforation", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/corneal-perforation" }, { "slug": "corneal-ulceration", "name": "Corneal ulceration", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/corneal-ulceration" }, { "slug": "skin-fissure", "name": "Cracked skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/skin-fissure" }, { "slug": "corneal-erosion", "name": "Damage to outer layer of the cornea of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/corneal-erosion" }, { "slug": "hypohidrosis", "name": "Decreased ability to sweat", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypohidrosis" }, { "slug": "dehydration", "name": "Dehydration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dehydration" }, { "slug": "diminished-health-related-quality-of-life", "name": "Diminished health-related quality of life", "systems": [ "constitutional-symptom" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/diminished-health-related-quality-of-life" }, { "slug": "dry-skin", "name": "Dry skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/dry-skin" }, { "slug": "euryblepharon", "name": "Euryblepharon", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/euryblepharon" }, { "slug": "ectropion", "name": "Everted eyelid", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/ectropion" }, { "slug": "eyebrow-scaling-skin", "name": "Eyebrow scaling skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/eyebrow-scaling-skin" }, { "slug": "entropion", "name": "Eyelid folded in", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/entropion" }, { "slug": "lagophthalmos", "name": "Eyelids stay open", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lagophthalmos" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "generalized-scaling", "name": "Generalized scaling", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/generalized-scaling" }, { "slug": "alopecia", "name": "Hair loss", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/alopecia" }, { "slug": "scarring-alopecia-of-scalp", "name": "Hair loss on scalp from scarring condition", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/scarring-alopecia-of-scalp" }, { "slug": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hearing-impairment" }, { "slug": "heat-intolerance", "name": "Heat intolerance", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/heat-intolerance" }, { "slug": "hyperkeratosis", "name": "Hyperkeratosis", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyperkeratosis" }, { "slug": "ichthyosis", "name": "Ichthyosis", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/ichthyosis" }, { "slug": "sepsis", "name": "Infection in blood stream", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/sepsis" }, { "slug": "blepharitis", "name": "Inflammation of eyelids", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-eye", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/blepharitis" }, { "slug": "pruritus", "name": "Itching", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/pruritus" }, { "slug": "limb-joint-contracture", "name": "Limb contractures", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/limb-joint-contracture" }, { "slug": "loss-of-eyelashes", "name": "Loss of eyelashes", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/loss-of-eyelashes" }, { "slug": "orthokeratotic-hyperkeratosis", "name": "Orthokeratotic hyperkeratosis", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/orthokeratotic-hyperkeratosis" }, { "slug": "eclabion", "name": "Outward turned lips", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/eclabion" }, { "slug": "pain", "name": "Pain", "systems": [ "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pain" }, { "slug": "nail-dystrophy", "name": "Poor nail formation", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/nail-dystrophy" }, { "slug": "punctal-stenosis", "name": "Punctal stenosis", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/punctal-stenosis" }, { "slug": "recurrent-infections", "name": "Recurrent infections", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/recurrent-infections" }, { "slug": "erythroderma", "name": "Red scaly skin caused by inflammatory skin disease", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/erythroderma" }, { "slug": "erythema", "name": "Redness of skin or mucous membrane", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/erythema" }, { "slug": "scaling-skin", "name": "Scaling skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/scaling-skin" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "sparse-hair", "name": "Sparse hair", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sparse-hair" }, { "slug": "aplasia-hypoplasia-of-the-eyebrow", "name": "Sparse or absent eyebrows", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-eyebrow" }, { "slug": "stiff-skin", "name": "Stiff skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/stiff-skin" }, { "slug": "palmoplantar-keratoderma", "name": "Thickening of palms and soles", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/palmoplantar-keratoderma" }, { "slug": "lack-of-skin-elasticity", "name": "Tight skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/lack-of-skin-elasticity" } ], "related": [ { "slug": "abca12", "symbol": "ABCA12", "name": "ATP binding cassette subfamily A member 12", "shared": 1, "url": "https://dantelabs.com/sv/genes/abca12" }, { "slug": "alox12b", "symbol": "ALOX12B", "name": "arachidonate 12-lipoxygenase, 12R type", "shared": 1, "url": "https://dantelabs.com/sv/genes/alox12b" }, { "slug": "aloxe3", "symbol": "ALOXE3", "name": "arachidonate epidermal lipoxygenase 3", "shared": 1, "url": "https://dantelabs.com/sv/genes/aloxe3" }, { "slug": "cers3", "symbol": "CERS3", "name": "ceramide synthase 3", "shared": 1, "url": "https://dantelabs.com/sv/genes/cers3" }, { "slug": "csta", "symbol": "CSTA", "name": "cystatin A", "shared": 1, "url": "https://dantelabs.com/sv/genes/csta" }, { "slug": "cyp4f22", "symbol": "CYP4F22", "name": "cytochrome P450 family 4 subfamily F member 22", "shared": 1, "url": "https://dantelabs.com/sv/genes/cyp4f22" }, { "slug": "krt2", "symbol": "KRT2", "name": "keratin 2", "shared": 1, "url": "https://dantelabs.com/sv/genes/krt2" }, { "slug": "lipn", "symbol": "LIPN", "name": "lipase family member N", "shared": 1, "url": "https://dantelabs.com/sv/genes/lipn" }, { "slug": "nipal4", "symbol": "NIPAL4", "name": "NIPA like domain containing 4", "shared": 1, "url": "https://dantelabs.com/sv/genes/nipal4" }, { "slug": "pnpla1", "symbol": "PNPLA1", "name": "patatin like domain 1, omega-hydroxyceramide transacylase", "shared": 1, "url": "https://dantelabs.com/sv/genes/pnpla1" }, { "slug": "sdr9c7", "symbol": "SDR9C7", "name": "short chain dehydrogenase/reductase family 9C member 7", "shared": 1, "url": "https://dantelabs.com/sv/genes/sdr9c7" }, { "slug": "serpinb8", "symbol": "SERPINB8", "name": "serpin family B member 8", "shared": 1, "url": "https://dantelabs.com/sv/genes/serpinb8" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }