{ "url": "https://dantelabs.com/no/genes/prss56", "gene": { "slug": "prss56", "symbol": "PRSS56", "name": "serine protease 56", "hgnc": "HGNC:39433", "summary": null, "location": "2q37.1", "locusType": "gene with protein product", "aliases": [], "previousSymbols": [], "ensemblId": "ENSG00000237412", "entrezId": 646960, "omim": [ "613858" ], "uniprot": [ "P0CW18" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "2", "start": 232520388, "end": 232525716, "strand": "+", "ensemblTranscript": "ENST00000617714.2", "refseqTranscript": "NM_001195129.2", "ensemblProtein": "ENSP00000479745.1", "refseqProtein": "NP_001182058.1", "exons": [ { "start": 232520388, "end": 232520695 }, { "start": 232521321, "end": 232521428 }, { "start": 232521816, "end": 232521866 }, { "start": 232521971, "end": 232522160 }, { "start": 232522515, "end": 232522614 }, { "start": 232522702, "end": 232522861 }, { "start": 232523060, "end": 232523202 }, { "start": 232523416, "end": 232523578 }, { "start": 232523772, "end": 232523945 }, { "start": 232524039, "end": 232524203 }, { "start": 232524307, "end": 232524369 }, { "start": 232524738, "end": 232524844 }, { "start": 232525216, "end": 232525716 } ], "cds": { "start": 232520599, "end": 232525506 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "2", "start": 233385173, "end": 233390422, "strand": "+" }, "neighbourhood": { "release": "116", "start": 232023052, "end": 233023051, "genes": [ { "symbol": "DIS3L2", "ensemblId": "ENSG00000144535", "biotype": "protein_coding", "start": 231961245, "end": 232344350, "strand": "+", "slug": "dis3l2" }, { "symbol": "ALPP", "ensemblId": "ENSG00000163283", "biotype": "protein_coding", "start": 232378724, "end": 232382889, "strand": "+", "slug": "alpp" }, { "symbol": "ALPG", "ensemblId": "ENSG00000163286", "biotype": "protein_coding", "start": 232406837, "end": 232410714, "strand": "+", "slug": "alpg" }, { "symbol": "ALPI", "ensemblId": "ENSG00000163295", "biotype": "protein_coding", "start": 232456125, "end": 232460753, "strand": "+", "slug": "alpi" }, { "symbol": "ECEL1", "ensemblId": "ENSG00000171551", "biotype": "protein_coding", "start": 232479825, "end": 232489045, "strand": "-", "slug": "ecel1" }, { "symbol": "CHRND", "ensemblId": "ENSG00000135902", "biotype": "protein_coding", "start": 232525993, "end": 232536667, "strand": "+", "slug": "chrnd" }, { "symbol": "CHRNG", "ensemblId": "ENSG00000196811", "biotype": "protein_coding", "start": 232539692, "end": 232548115, "strand": "+", "slug": "chrng" }, { "symbol": "TIGD1", "ensemblId": "ENSG00000221944", "biotype": "protein_coding", "start": 232543883, "end": 232550557, "strand": "-", "slug": "tigd1" }, { "symbol": "EIF4E2", "ensemblId": "ENSG00000135930", "biotype": "protein_coding", "start": 232550633, "end": 232585201, "strand": "+", "slug": "eif4e2" }, { "symbol": "EFHD1", "ensemblId": "ENSG00000115468", "biotype": "protein_coding", "start": 232606057, "end": 232682781, "strand": "+", "slug": "efhd1" }, { "symbol": "GIGYF2", "ensemblId": "ENSG00000204120", "biotype": "protein_coding", "start": 232697259, "end": 232863338, "strand": "+", "slug": "gigyf2" }, { "symbol": "KCNJ13", "ensemblId": "ENSG00000115474", "biotype": "protein_coding", "start": 232765802, "end": 232776566, "strand": "-", "slug": "kcnj13" }, { "symbol": "SNORC", "ensemblId": "ENSG00000182600", "biotype": "protein_coding", "start": 232857270, "end": 232878708, "strand": "+", "slug": "snorc" }, { "symbol": "NGEF", "ensemblId": "ENSG00000066248", "biotype": "protein_coding", "start": 232878686, "end": 233013263, "strand": "-", "slug": "ngef" }, { "symbol": "NEU2", "ensemblId": "ENSG00000115488", "biotype": "protein_coding", "start": 233023032, "end": 233042480, "strand": "+", "slug": "neu2" } ], "truncated": false }, "reports": [ { "slug": "microphthalmia-anophthalmia-coloboma", "name": "Mikroftalmi, anoftalmi og kolobom", "diseases": [ { "mondoId": "MONDO:0016764", "name": "Isolert anoftalmi, mikroftalmi og kolobom", "genes": 9, "inheritance": null, "description": "Øyemisdannelser uten andre trekk, inkludert nanoftalmos, forårsaket av endringer i gener som VSX2, RAX, MFRP, PRSS56 og andre.", "management": "Personer med nanoftalmos (ofte MFRP eller PRSS56) har økt risiko for trangvinkelglaukom og trenger regelmessige øyekontroller. En genetisk diagnose gir også informasjon om risikoen for tilbakefall.", "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/no/conditions/microphthalmia-anophthalmia-coloboma" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-choroid-morphology", "name": "Abnormal choroid morphology", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-choroid-morphology" }, { "slug": "abnormal-retinal-pigmentation", "name": "Abnormal retinal pigmentation", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-retinal-pigmentation" }, { "slug": "microphthalmia", "name": "Abnormally small eyeball", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/microphthalmia" }, { "slug": "microcornea", "name": "Cornea of eye less than 10mm in diameter", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/microcornea" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "glaucoma", "name": "Glaucoma", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/glaucoma" }, { "slug": "ocular-hypertension", "name": "High eye pressure", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ocular-hypertension" }, { "slug": "amblyopia", "name": "Lazy eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/amblyopia" }, { "slug": "retinal-fold", "name": "Retinal fold", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/retinal-fold" }, { "slug": "scleral-thickening", "name": "Scleral thickening", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/scleral-thickening" }, { "slug": "high-hypermetropia", "name": "Severe farsightedness", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/high-hypermetropia" } ], "related": [ { "slug": "aldh1a3", "symbol": "ALDH1A3", "name": "aldehyde dehydrogenase 1 family member A3", "shared": 1, "url": "https://dantelabs.com/no/genes/aldh1a3" }, { "slug": "fzd5", "symbol": "FZD5", "name": "frizzled class receptor 5", "shared": 1, "url": "https://dantelabs.com/no/genes/fzd5" }, { "slug": "mfrp", "symbol": "MFRP", "name": "membrane frizzled-related protein", "shared": 1, "url": "https://dantelabs.com/no/genes/mfrp" }, { "slug": "rax", "symbol": "RAX", "name": "retina and anterior neural fold homeobox", "shared": 1, "url": "https://dantelabs.com/no/genes/rax" }, { "slug": "rbp4", "symbol": "RBP4", "name": "retinol binding protein 4", "shared": 1, "url": "https://dantelabs.com/no/genes/rbp4" }, { "slug": "shh", "symbol": "SHH", "name": "sonic hedgehog signaling molecule", "shared": 1, "url": "https://dantelabs.com/no/genes/shh" }, { "slug": "tmem98", "symbol": "TMEM98", "name": "transmembrane protein 98", "shared": 1, "url": "https://dantelabs.com/no/genes/tmem98" }, { "slug": "vsx2", "symbol": "VSX2", "name": "visual system homeobox 2", "shared": 1, "url": "https://dantelabs.com/no/genes/vsx2" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }