{ "url": "https://dantelabs.com/da/genes/psenen", "gene": { "slug": "psenen", "symbol": "PSENEN", "name": "presenilin enhancer, gamma-secretase subunit", "hgnc": "HGNC:30100", "summary": null, "location": "19q13.12", "locusType": "gene with protein product", "aliases": [ "PEN2" ], "previousSymbols": [], "ensemblId": "ENSG00000205155", "entrezId": 55851, "omim": [ "607632" ], "uniprot": [ "Q9NZ42" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "19", "start": 35745651, "end": 35747519, "strand": "+", "ensemblTranscript": "ENST00000587708.7", "refseqTranscript": "NM_172341.4", "ensemblProtein": "ENSP00000468411.1", "refseqProtein": "NP_758844.1", "exons": [ { "start": 35745651, "end": 35745700 }, { "start": 35745835, "end": 35745991 }, { "start": 35746419, "end": 35746523 }, { "start": 35746708, "end": 35747519 } ], "cds": { "start": 35745931, "end": 35746847 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "19", "start": 36236015, "end": 36237911, "strand": "+" }, "neighbourhood": { "release": "116", "start": 35246585, "end": 36246584, "genes": [ { "symbol": "LSR", "ensemblId": "ENSG00000105699", "biotype": "protein_coding", "start": 35248330, "end": 35267967, "strand": "+", "slug": "lsr" }, { "symbol": "USF2", "ensemblId": "ENSG00000105698", "biotype": "protein_coding", "start": 35268485, "end": 35279821, "strand": "+", "slug": "usf2" }, { "symbol": "HAMP", "ensemblId": "ENSG00000105697", "biotype": "protein_coding", "start": 35280716, "end": 35285146, "strand": "+", "slug": "hamp" }, { "symbol": "MAG", "ensemblId": "ENSG00000105695", "biotype": "protein_coding", "start": 35291647, "end": 35316932, "strand": "+", "slug": "mag" }, { "symbol": "CD22", "ensemblId": "ENSG00000012124", "biotype": "protein_coding", "start": 35319261, "end": 35347361, "strand": "+", "slug": "cd22" }, { "symbol": "FFAR1", "ensemblId": "ENSG00000126266", "biotype": "protein_coding", "start": 35347902, "end": 35353864, "strand": "+", "slug": "ffar1" }, { "symbol": "FFAR3", "ensemblId": "ENSG00000185897", "biotype": "protein_coding", "start": 35358348, "end": 35360489, "strand": "+", "slug": "ffar3" }, { "symbol": "GPR42", "ensemblId": "ENSG00000126251", "biotype": "protein_coding", "start": 35371068, "end": 35372962, "strand": "+", "slug": "gpr42" }, { "symbol": "FFAR2", "ensemblId": "ENSG00000126262", "biotype": "protein_coding", "start": 35443907, "end": 35451767, "strand": "+", "slug": "ffar2" }, { "symbol": "KRTDAP", "ensemblId": "ENSG00000188508", "biotype": "protein_coding", "start": 35487324, "end": 35495558, "strand": "-", "slug": "krtdap" }, { "symbol": "DMKN", "ensemblId": "ENSG00000161249", "biotype": "protein_coding", "start": 35497220, "end": 35513704, "strand": "-", "slug": "dmkn" }, { "symbol": "SBSN", "ensemblId": "ENSG00000189001", "biotype": "protein_coding", "start": 35523367, "end": 35528351, "strand": "-", "slug": "sbsn" }, { "symbol": "GAPDHS", "ensemblId": "ENSG00000105679", "biotype": "protein_coding", "start": 35533455, "end": 35545319, "strand": "+", "slug": "gapdhs" }, { "symbol": "TMEM147", "ensemblId": "ENSG00000105677", "biotype": "protein_coding", "start": 35545600, "end": 35547527, "strand": "+", "slug": "tmem147" }, { "symbol": "ATP4A", "ensemblId": "ENSG00000105675", "biotype": "protein_coding", "start": 35549339, "end": 35563658, "strand": "-", "slug": "atp4a" }, { "symbol": "PMIS2", "ensemblId": "ENSG00000283758", "biotype": "protein_coding", "start": 35586161, "end": 35587296, "strand": "+", "slug": "pmis2" }, { "symbol": "HAUS5", "ensemblId": "ENSG00000249115", "biotype": "protein_coding", "start": 35612735, "end": 35625355, "strand": "+", "slug": "haus5" }, { "symbol": "RBM42", "ensemblId": "ENSG00000126254", "biotype": "protein_coding", "start": 35628989, "end": 35638927, "strand": "+", "slug": "rbm42" }, { "symbol": "ETV2", "ensemblId": "ENSG00000105672", "biotype": "protein_coding", "start": 35641730, "end": 35644871, "strand": "+", "slug": "etv2" }, { "symbol": "COX6B1", "ensemblId": "ENSG00000126267", "biotype": "protein_coding", "start": 35648230, "end": 35662890, "strand": "+", "slug": "cox6b1" }, { "symbol": "UPK1A", "ensemblId": "ENSG00000105668", "biotype": "protein_coding", "start": 35666516, "end": 35678481, "strand": "+", "slug": "upk1a" }, { "symbol": "ZBTB32", "ensemblId": "ENSG00000011590", "biotype": "protein_coding", "start": 35704558, "end": 35717048, "strand": "+", "slug": "zbtb32" }, { "symbol": "KMT2B", "ensemblId": "ENSG00000272333", "biotype": "protein_coding", "start": 35717973, "end": 35738880, "strand": "+", "slug": "kmt2b" }, { "symbol": "IGFLR1", "ensemblId": "ENSG00000126246", "biotype": "protein_coding", "start": 35738798, "end": 35742459, "strand": "-", "slug": "igflr1" }, { "symbol": "", "ensemblId": "ENSG00000267120", "biotype": "protein_coding", "start": 35739252, "end": 35745432, "strand": "-" }, { "symbol": "U2AF1L4", "ensemblId": "ENSG00000161265", "biotype": "protein_coding", "start": 35742464, "end": 35745460, "strand": "-", "slug": "u2af1l4" }, { "symbol": "", "ensemblId": "ENSG00000188223", "biotype": "protein_coding", "start": 35745678, "end": 35754519, "strand": "+" }, { "symbol": "LIN37", "ensemblId": "ENSG00000267796", "biotype": "protein_coding", "start": 35748361, "end": 35754519, "strand": "+", "slug": "lin37" }, { "symbol": "HSPB6", "ensemblId": "ENSG00000004776", "biotype": "protein_coding", "start": 35754566, "end": 35758079, "strand": "-", "slug": "hspb6" }, { "symbol": "PROSER3", "ensemblId": "ENSG00000167595", "biotype": "protein_coding", "start": 35758143, "end": 35771398, "strand": "+", "slug": "proser3" }, { "symbol": "ARHGAP33", "ensemblId": "ENSG00000004777", "biotype": "protein_coding", "start": 35774532, "end": 35788822, "strand": "+", "slug": "arhgap33" }, { "symbol": "PRODH2", "ensemblId": "ENSG00000250799", "biotype": "protein_coding", "start": 35799975, "end": 35813299, "strand": "-", "slug": "prodh2" }, { "symbol": "NPHS1", "ensemblId": "ENSG00000161270", "biotype": "protein_coding", "start": 35825372, "end": 35869287, "strand": "-", "slug": "nphs1" }, { "symbol": "KIRREL2", "ensemblId": "ENSG00000126259", "biotype": "protein_coding", "start": 35851369, "end": 35867145, "strand": "+", "slug": "kirrel2" }, { "symbol": "APLP1", "ensemblId": "ENSG00000105290", "biotype": "protein_coding", "start": 35867899, "end": 35879803, "strand": "+", "slug": "aplp1" }, { "symbol": "NFKBID", "ensemblId": "ENSG00000167604", "biotype": "protein_coding", "start": 35887129, "end": 35902303, "strand": "-", "slug": "nfkbid" }, { "symbol": "HCST", "ensemblId": "ENSG00000126264", "biotype": "protein_coding", "start": 35899017, "end": 35904377, "strand": "+", "slug": "hcst" }, { "symbol": "TYROBP", "ensemblId": "ENSG00000011600", "biotype": "protein_coding", "start": 35904398, "end": 35908318, "strand": "-", "slug": "tyrobp" }, { "symbol": "LRFN3", "ensemblId": "ENSG00000126243", "biotype": "protein_coding", "start": 35935358, "end": 35946624, "strand": "+", "slug": "lrfn3" }, { "symbol": "SDHAF1", "ensemblId": "ENSG00000205138", "biotype": "protein_coding", "start": 35995188, "end": 35996312, "strand": "+", "slug": "sdhaf1" }, { "symbol": "SYNE4", "ensemblId": "ENSG00000181392", "biotype": "protein_coding", "start": 36000545, "end": 36008831, "strand": "-", "slug": "syne4" }, { "symbol": "ALKBH6", "ensemblId": "ENSG00000239382", "biotype": "protein_coding", "start": 36009113, "end": 36014297, "strand": "-", "slug": "alkbh6" }, { "symbol": "CLIP3", "ensemblId": "ENSG00000105270", "biotype": "protein_coding", "start": 36014660, "end": 36033343, "strand": "-", "slug": "clip3" }, { "symbol": "THAP8", "ensemblId": "ENSG00000161277", "biotype": "protein_coding", "start": 36033393, "end": 36054739, "strand": "-", "slug": "thap8" }, { "symbol": "WDR62", "ensemblId": "ENSG00000075702", "biotype": "protein_coding", "start": 36054649, "end": 36105112, "strand": "+", "slug": "wdr62" }, { "symbol": "OVOL3", "ensemblId": "ENSG00000105261", "biotype": "protein_coding", "start": 36111116, "end": 36113711, "strand": "+", "slug": "ovol3" }, { "symbol": "POLR2I", "ensemblId": "ENSG00000105258", "biotype": "protein_coding", "start": 36111817, "end": 36115213, "strand": "-", "slug": "polr2i" }, { "symbol": "TBCB", "ensemblId": "ENSG00000105254", "biotype": "protein_coding", "start": 36114289, "end": 36125948, "strand": "+", "slug": "tbcb" }, { "symbol": "CAPNS1", "ensemblId": "ENSG00000126247", "biotype": "protein_coding", "start": 36139953, "end": 36150356, "strand": "+", "slug": "capns1" }, { "symbol": "COX7A1", "ensemblId": "ENSG00000161281", "biotype": "protein_coding", "start": 36150287, "end": 36152699, "strand": "-", "slug": "cox7a1" }, { "symbol": "ZNF565", "ensemblId": "ENSG00000196357", "biotype": "protein_coding", "start": 36181542, "end": 36246257, "strand": "-", "slug": "znf565" }, { "symbol": "ZNF146", "ensemblId": "ENSG00000167635", "biotype": "protein_coding", "start": 36214602, "end": 36239969, "strand": "+", "slug": "znf146" } ], "truncated": false }, "reports": [ { "slug": "familial-hidradenitis-suppurativa", "name": "Familiær hidradenitis suppurativa", "diseases": [ { "mondoId": "MONDO:0024516", "name": "Familiær hidradenitis suppurativa", "genes": 2, "inheritance": "autosomal-dominant", "description": "Hidradenitis suppurativa forårsaget af varianter i gamma-secretase-generne NCSTN, PSENEN eller PSEN1, ofte med tidligere debut og mere udbredt sygdom.", "management": "Tidlig diagnose understøtter tidligere behandling, vægtregulering og rygestop.", "evidence": { "gencc": [ "Ambry Genetics", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/da/conditions/familial-hidradenitis-suppurativa" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-fingernail-morphology", "name": "Abnormal fingernails", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-fingernail-morphology" }, { "slug": "abnormality-of-the-hand", "name": "Abnormality of the hand", "systems": [ "abnormality-of-limbs" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-hand" }, { "slug": "abnormality-of-the-neck", "name": "Abnormality of the neck", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-neck" }, { "slug": "acne-inversa", "name": "Acne inversa", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/acne-inversa" }, { "slug": "anal-margin-squamous-cell-carcinoma", "name": "Anal margin squamous cell carcinoma", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/anal-margin-squamous-cell-carcinoma" }, { "slug": "arthritis", "name": "Arthritis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/arthritis" }, { "slug": "chronic-furunculosis", "name": "Chronic furunculosis", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/chronic-furunculosis" }, { "slug": "digital-pitting-scar", "name": "Digital pitting scar", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/digital-pitting-scar" }, { "slug": "epidermoid-cyst", "name": "Epidermoid cyst", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/epidermoid-cyst" }, { "slug": "erythematous-papule", "name": "Erythematous papule", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/erythematous-papule" }, { "slug": "follicular-hyperkeratosis", "name": "Follicular hyperkeratosis", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/follicular-hyperkeratosis" }, { "slug": "inguinal-freckling", "name": "Freckles in groin region", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/inguinal-freckling" }, { "slug": "generalized-abnormality-of-skin", "name": "Generalized abnormality of skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/generalized-abnormality-of-skin" }, { "slug": "heat-intolerance", "name": "Heat intolerance", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/heat-intolerance" }, { "slug": "hyperkeratosis", "name": "Hyperkeratosis", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperkeratosis" }, { "slug": "hyperkeratotic-papule", "name": "Hyperkeratotic papule", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyperkeratotic-papule" }, { "slug": "hyperpigmented-papule", "name": "Hyperpigmented papule", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyperpigmented-papule" }, { "slug": "hypermelanotic-macule", "name": "Hyperpigmented skin patches", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypermelanotic-macule" }, { "slug": "hypopigmented-macule", "name": "Hypopigmented macule", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hypopigmented-macule" }, { "slug": "pruritus", "name": "Itching", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pruritus" }, { "slug": "keratoacanthoma", "name": "Keratoacanthoma", "systems": [ "abnormality-of-the-integument", "neoplasm" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/keratoacanthoma" }, { "slug": "mixed-hypo-and-hyperpigmentation-of-the-skin", "name": "Mixed hypo- and hyperpigmentation of the skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/mixed-hypo-and-hyperpigmentation-of-the-skin" }, { "slug": "palmar-pits", "name": "Palmar pits", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/palmar-pits" }, { "slug": "penile-freckling", "name": "Penile freckling", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/penile-freckling" }, { "slug": "perifolliculitis", "name": "Perifolliculitis", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/perifolliculitis" }, { "slug": "progressive-reticulate-hyperpigmentation", "name": "Progressive reticulate hyperpigmentation", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/progressive-reticulate-hyperpigmentation" }, { "slug": "recurrent-cutaneous-abscess-formation", "name": "Recurrent cutaneous abscess formation", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-cutaneous-abscess-formation" }, { "slug": "scrotal-hyperpigmentation", "name": "Scrotal hyperpigmentation", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/scrotal-hyperpigmentation" }, { "slug": "skin-vesicle", "name": "Skin vesicle", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/skin-vesicle" }, { "slug": "squamous-cell-carcinoma", "name": "Squamous cell carcinoma", "systems": [ "abnormality-of-the-integument", "neoplasm" ], "url": "https://dantelabs.com/traits/squamous-cell-carcinoma" } ], "related": [ { "slug": "ncstn", "symbol": "NCSTN", "name": "nicastrin", "shared": 1, "url": "https://dantelabs.com/da/genes/ncstn" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }