{ "url": "https://dantelabs.com/no/genes/poglut1", "gene": { "slug": "poglut1", "symbol": "POGLUT1", "name": "protein O-glucosyltransferase 1", "hgnc": "HGNC:22954", "summary": null, "location": "3q13.33", "locusType": "gene with protein product", "aliases": [ "MDS010", "MGC32995", "9630046K23Rik", "MDSRP", "hCLP46", "KDELCL1", "Rumi" ], "previousSymbols": [ "C3orf9", "KTELC1" ], "ensemblId": "ENSG00000163389", "entrezId": 56983, "omim": [ "615618" ], "uniprot": [ "Q8NBL1" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "3", "start": 119468963, "end": 119494708, "strand": "+", "ensemblTranscript": "ENST00000295588.9", "refseqTranscript": "NM_152305.3", "ensemblProtein": "ENSP00000295588.4", "refseqProtein": "NP_689518.1", "exons": [ { "start": 119468963, "end": 119469106 }, { "start": 119469820, "end": 119469910 }, { "start": 119471309, "end": 119471452 }, { "start": 119477313, "end": 119477448 }, { "start": 119480051, "end": 119480172 }, { "start": 119485328, "end": 119485387 }, { "start": 119486833, "end": 119486932 }, { "start": 119488929, "end": 119488987 }, { "start": 119490551, "end": 119490718 }, { "start": 119491518, "end": 119491574 }, { "start": 119492282, "end": 119494708 } ], "cds": { "start": 119469022, "end": 119492438 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "3", "start": 119187785, "end": 119213555, "strand": "+" }, "neighbourhood": { "release": "116", "start": 118981836, "end": 119981835, "genes": [ { "symbol": "IGSF11", "ensemblId": "ENSG00000144847", "biotype": "protein_coding", "start": 118900557, "end": 119146068, "strand": "-", "slug": "igsf11" }, { "symbol": "TEX55", "ensemblId": "ENSG00000163424", "biotype": "protein_coding", "start": 119146151, "end": 119160042, "strand": "+", "slug": "tex55" }, { "symbol": "", "ensemblId": "ENSG00000251012", "biotype": "protein_coding", "start": 119147375, "end": 119187807, "strand": "+" }, { "symbol": "UPK1B", "ensemblId": "ENSG00000114638", "biotype": "protein_coding", "start": 119173516, "end": 119205758, "strand": "+", "slug": "upk1b" }, { "symbol": "B4GALT4", "ensemblId": "ENSG00000121578", "biotype": "protein_coding", "start": 119208851, "end": 119240952, "strand": "-", "slug": "b4galt4" }, { "symbol": "ARHGAP31", "ensemblId": "ENSG00000031081", "biotype": "protein_coding", "start": 119294031, "end": 119420824, "strand": "+", "slug": "arhgap31" }, { "symbol": "TMEM39A", "ensemblId": "ENSG00000176142", "biotype": "protein_coding", "start": 119428949, "end": 119468854, "strand": "-", "slug": "tmem39a" }, { "symbol": "TIMMDC1", "ensemblId": "ENSG00000113845", "biotype": "protein_coding", "start": 119498515, "end": 119525090, "strand": "+", "slug": "timmdc1" }, { "symbol": "CD80", "ensemblId": "ENSG00000121594", "biotype": "protein_coding", "start": 119523073, "end": 119580616, "strand": "-", "slug": "cd80" }, { "symbol": "ADPRH", "ensemblId": "ENSG00000144843", "biotype": "protein_coding", "start": 119579268, "end": 119590165, "strand": "+", "slug": "adprh" }, { "symbol": "PLA1A", "ensemblId": "ENSG00000144837", "biotype": "protein_coding", "start": 119597808, "end": 119629818, "strand": "+", "slug": "pla1a" }, { "symbol": "POPDC2", "ensemblId": "ENSG00000121577", "biotype": "protein_coding", "start": 119636457, "end": 119665324, "strand": "-", "slug": "popdc2" }, { "symbol": "COX17", "ensemblId": "ENSG00000138495", "biotype": "protein_coding", "start": 119654513, "end": 119677621, "strand": "-", "slug": "cox17" }, { "symbol": "CFAP91", "ensemblId": "ENSG00000183833", "biotype": "protein_coding", "start": 119702990, "end": 119767102, "strand": "+", "slug": "cfap91" }, { "symbol": "", "ensemblId": "ENSG00000285585", "biotype": "protein_coding", "start": 119703076, "end": 119807570, "strand": "+" }, { "symbol": "NR1I2", "ensemblId": "ENSG00000144852", "biotype": "protein_coding", "start": 119780484, "end": 119818718, "strand": "+", "slug": "nr1i2" }, { "symbol": "GSK3B", "ensemblId": "ENSG00000082701", "biotype": "protein_coding", "start": 119821321, "end": 120095712, "strand": "-", "slug": "gsk3b" } ], "truncated": false }, "reports": [ { "slug": "limb-girdle-muscular-dystrophy", "name": "Gördelmuskeldystrofi", "diseases": [ { "mondoId": "MONDO:0016971", "name": "Gördelmuskeldystrofi", "genes": 33, "inheritance": null, "description": "Gördelmuskeldystrofi defineres som en samling av mange undertyper med ulike arvemønstre (der også grunnlaget for diagnose varierer). Bærere av varianter knyttet til sykdommen bør søke veiledning hos en spesialist i muskel- og skjelettsykdommer for en endelig diagnose.", "management": null, "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/no/conditions/limb-girdle-muscular-dystrophy" }, { "slug": "disorder-of-glycosylation", "name": "Medfødte glykosyleringsforstyrrelser", "diseases": [ { "mondoId": "MONDO:0015286", "name": "Medfødte glykosyleringsforstyrrelser (CDG)", "genes": 98, "inheritance": null, "description": "En stor gruppe arvelige tilstander der sukkerkjeder (glykaner) ikke blir riktig bygget opp eller festet til proteiner og lipider, og som ofte rammer hjernen, leveren, blodkoagulasjonen, veksten og mange andre organsystemer. De fleste er autosomalt recessive, men noen er X-bundne eller autosomalt dominante.", "management": null, "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/no/conditions/disorder-of-glycosylation" } ], "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": "occasional", "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": "digital-pitting-scar", "name": "Digital pitting scar", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/digital-pitting-scar" }, { "slug": "elevated-circulating-creatine-kinase-activity", "name": "Elevated blood creatine phosphokinase", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity" }, { "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": "fatty-replacement-of-skeletal-muscle", "name": "Fatty replacement of skeletal muscle", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/fatty-replacement-of-skeletal-muscle" }, { "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": "hypergranulosis", "name": "Hypergranulosis", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/hypergranulosis" }, { "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": "limb-girdle-muscular-dystrophy", "name": "Limb-girdle muscular dystrophy", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/limb-girdle-muscular-dystrophy" }, { "slug": "loss-of-ambulation", "name": "Loss of ability to walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/loss-of-ambulation" }, { "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": "skeletal-muscle-atrophy", "name": "Muscle degeneration", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy" }, { "slug": "airway-obstruction", "name": "Obstructive lung disease", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/airway-obstruction" }, { "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": "papule", "name": "Papule", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/papule" }, { "slug": "penile-freckling", "name": "Penile freckling", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/penile-freckling" }, { "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": "proximal-lower-limb-muscle-weakness", "name": "Proximal lower limb muscle weakness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/proximal-lower-limb-muscle-weakness" }, { "slug": "reduced-fev1-fvc-ratio", "name": "Reduced FEV1/FVC ratio", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/reduced-fev1-fvc-ratio" }, { "slug": "reduced-forced-vital-capacity", "name": "Reduced forced vital capacity", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/reduced-forced-vital-capacity" }, { "slug": "respiratory-insufficiency", "name": "Respiratory function loss", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/respiratory-insufficiency" }, { "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": "restrictive-ventilatory-defect", "name": "Stiff lung or chest wall causing decreased lung volume", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/restrictive-ventilatory-defect" }, { "slug": "epidermal-acanthosis", "name": "Thickening of upper layer of skin", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/epidermal-acanthosis" }, { "slug": "scapular-winging", "name": "Winged shoulder blade", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/scapular-winging" } ], "related": [ { "slug": "dag1", "symbol": "DAG1", "name": "dystroglycan 1", "shared": 2, "url": "https://dantelabs.com/no/genes/dag1" }, { "slug": "fkrp", "symbol": "FKRP", "name": "fukutin related protein", "shared": 2, "url": "https://dantelabs.com/no/genes/fkrp" }, { "slug": "fktn", "symbol": "FKTN", "name": "fukutin", "shared": 2, "url": "https://dantelabs.com/no/genes/fktn" }, { "slug": "gmppb", "symbol": "GMPPB", "name": "GDP-mannose pyrophosphorylase B", "shared": 2, "url": "https://dantelabs.com/no/genes/gmppb" }, { "slug": "pomgnt1", "symbol": "POMGNT1", "name": "protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)", "shared": 2, "url": "https://dantelabs.com/no/genes/pomgnt1" }, { "slug": "a4galt", "symbol": "A4GALT", "name": "alpha 1,4-galactosyltransferase (P1PK blood group)", "shared": 1, "url": "https://dantelabs.com/no/genes/a4galt" }, { "slug": "alg1", "symbol": "ALG1", "name": "ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase", "shared": 1, "url": "https://dantelabs.com/no/genes/alg1" }, { "slug": "alg11", "symbol": "ALG11", "name": "ALG11 alpha-1,2-mannosyltransferase", "shared": 1, "url": "https://dantelabs.com/no/genes/alg11" }, { "slug": "alg12", "symbol": "ALG12", "name": "ALG12 alpha-1,6-mannosyltransferase", "shared": 1, "url": "https://dantelabs.com/no/genes/alg12" }, { "slug": "alg13", "symbol": "ALG13", "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit", "shared": 1, "url": "https://dantelabs.com/no/genes/alg13" }, { "slug": "alg14", "symbol": "ALG14", "name": "ALG14 UDP-N-acetylglucosaminyltransferase subunit", "shared": 1, "url": "https://dantelabs.com/no/genes/alg14" }, { "slug": "alg2", "symbol": "ALG2", "name": "ALG2 alpha-1,3/1,6-mannosyltransferase", "shared": 1, "url": "https://dantelabs.com/no/genes/alg2" } ], "sources": { "bundleId": "2026.10.19-9814e911", "panel": "2026-10-19", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }