{ "url": "https://dantelabs.com/fr/genes/lemd2", "gene": { "slug": "lemd2", "symbol": "LEMD2", "name": "LEM domain nuclear envelope protein 2", "hgnc": "HGNC:21244", "summary": null, "location": "6p21.31", "locusType": "gene with protein product", "aliases": [ "dJ482C21.1", "NET25", "LEM2" ], "previousSymbols": [], "ensemblId": "ENSG00000161904", "entrezId": 221496, "omim": [ "616312" ], "uniprot": [ "Q8NC56" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "6", "start": 33771213, "end": 33789130, "strand": "-", "ensemblTranscript": "ENST00000293760.10", "refseqTranscript": "NM_181336.4", "ensemblProtein": "ENSP00000293760.5", "refseqProtein": "NP_851853.1", "exons": [ { "start": 33771213, "end": 33772778 }, { "start": 33776954, "end": 33777056 }, { "start": 33777138, "end": 33777239 }, { "start": 33778242, "end": 33778387 }, { "start": 33780100, "end": 33780179 }, { "start": 33781077, "end": 33781153 }, { "start": 33784352, "end": 33784427 }, { "start": 33786734, "end": 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"ENSG00000112514", "biotype": "protein_coding", "start": 33416442, "end": 33418381, "strand": "-", "slug": "cuta" }, { "symbol": "SYNGAP1", "ensemblId": "ENSG00000197283", "biotype": "protein_coding", "start": 33419661, "end": 33453689, "strand": "+", "slug": "syngap1" }, { "symbol": "ZBTB9", "ensemblId": "ENSG00000213588", "biotype": "protein_coding", "start": 33453970, "end": 33457544, "strand": "+", "slug": "zbtb9" }, { "symbol": "BAK1", "ensemblId": "ENSG00000030110", "biotype": "protein_coding", "start": 33568791, "end": 33580305, "strand": "-", "slug": "bak1" }, { "symbol": "ITPR3", "ensemblId": "ENSG00000096433", "biotype": "protein_coding", "start": 33620331, "end": 33696575, "strand": "+", "slug": "itpr3" }, { "symbol": "UQCC2", "ensemblId": "ENSG00000137288", "biotype": "protein_coding", "start": 33690635, "end": 33711748, "strand": "-", "slug": "uqcc2" }, { "symbol": "IP6K3", "ensemblId": "ENSG00000161896", "biotype": "protein_coding", "start": 33721314, "end": 33750520, "strand": "-", "slug": "ip6k3" }, { "symbol": "MLN", "ensemblId": "ENSG00000096395", "biotype": "protein_coding", "start": 33794673, "end": 33804006, "strand": "-", "slug": "mln" }, { "symbol": "GRM4", "ensemblId": "ENSG00000124493", "biotype": "protein_coding", "start": 34018643, "end": 34155622, "strand": "-", "slug": "grm4" }, { "symbol": "HMGA1", "ensemblId": "ENSG00000137309", "biotype": "protein_coding", "start": 34235618, "end": 34246236, "strand": "+", "slug": "hmga1" }, { "symbol": "SMIM29", "ensemblId": "ENSG00000186577", "biotype": "protein_coding", "start": 34245865, "end": 34249113, "strand": "-", "slug": "smim29" }, { "symbol": "NUDT3", "ensemblId": "ENSG00000272325", "biotype": "protein_coding", "start": 34263257, "end": 34392832, "strand": "-", "slug": "nudt3" } ], "truncated": false }, "reports": [ { "slug": "hereditary-congenital-and-juvenile-cataract", "name": "Cataracte héréditaire congénitale et juvénile", "diseases": [ { "mondoId": "MONDO:0011060", "name": "Cataracte précoce non syndromique", "genes": 22, "inheritance": null, "description": "Cataracte qui apparaît à la naissance ou tôt dans la vie, sans autres signes associés, causée par des modifications de gènes du cristallin tels que les cristallines (CRYAA, CRYBB2, CRYGD et d'autres), GJA3, GJA8 et MIP.", "management": "Un dépistage précoce et une intervention chirurgicale chez l'enfant permettent de prévenir une perte de vision permanente due à l'amblyopie, et les membres de la famille peuvent se voir proposer un examen de la vue.", "evidence": { "gencc": [ "G2P" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/fr/conditions/hereditary-congenital-and-juvenile-cataract" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "arrhythmia", "name": "Abnormal heart rate", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/arrhythmia" }, { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "convex-nasal-ridge", "name": "Beaked nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/convex-nasal-ridge" }, { "slug": "insulin-resistance", "name": "Body fails to respond to insulin", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/insulin-resistance" }, { "slug": "proptosis", "name": "Bulging eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/proptosis" }, { "slug": "cns-hypomyelination", "name": "CNS hypomyelination", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cns-hypomyelination" }, { "slug": "complete-right-bundle-branch-block", "name": "Complete right bundle branch block", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/complete-right-bundle-branch-block" }, { "slug": "shallow-orbits", "name": "Decreased depth of eye sockets", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-eye", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/shallow-orbits" }, { "slug": "delayed-eruption-of-primary-teeth", "name": "Delayed eruption of baby teeth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/delayed-eruption-of-primary-teeth" }, { "slug": "wormian-bones", "name": "Extra bones within cranial sutures", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/wormian-bones" }, { "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": "eruption-failure", "name": "Failure of eruption of tooth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/eruption-failure" }, { "slug": "femur-fracture", "name": "Femur fracture", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/femur-fracture" }, { "slug": "growth-delay", "name": "Growth delay", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/growth-delay" }, { "slug": "hyperintensity-of-cerebral-white-matter-on-mri", "name": "Hyperintensity of cerebral white matter on MRI", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperintensity-of-cerebral-white-matter-on-mri" }, { "slug": "intention-tremor", "name": "Intention tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/intention-tremor" }, { "slug": "juvenile-cataract", "name": "Juvenile cataract", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/juvenile-cataract" }, { "slug": "large-forehead", "name": "Large forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/large-forehead" }, { "slug": "micrognathia", "name": "Little lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/micrognathia" }, { "slug": "reduced-bone-mineral-density", "name": "Low solidness and mass of the bones", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/reduced-bone-mineral-density" }, { "slug": "midface-retrusion", "name": "Midface retrusion", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/midface-retrusion" }, { "slug": "muscle-weakness", "name": "Muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/muscle-weakness" }, { "slug": "narrow-mouth", "name": "Narrow mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/narrow-mouth" }, { "slug": "poor-appetite", "name": "Poor appetite", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/poor-appetite" }, { "slug": "premature-rupture-of-membranes", "name": "Premature rupture of membranes", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/premature-rupture-of-membranes" }, { "slug": "intrauterine-growth-retardation", "name": "Prenatal growth deficiency", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/intrauterine-growth-retardation" }, { "slug": "prominent-superficial-veins", "name": "Prominent veins", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/prominent-superficial-veins" }, { "slug": "pulmonic-regurgitation", "name": "Pulmonic regurgitation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pulmonic-regurgitation" }, { "slug": "reduced-subcutaneous-adipose-tissue", "name": "Reduced fat tissue below the skin", "systems": [ "abnormality-of-the-integument", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/reduced-subcutaneous-adipose-tissue" }, { "slug": "short-clavicles", "name": "Short collarbone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-clavicles" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "smooth-philtrum", "name": "Smooth philtrum", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/smooth-philtrum" }, { "slug": "sudden-cardiac-death", "name": "Sudden cardiac death", "systems": [ "abnormality-of-the-cardiovascular-system", "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sudden-cardiac-death" }, { "slug": "triangular-face", "name": "Triangular face", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/triangular-face" }, { "slug": "ventricular-septal-hypertrophy", "name": "Ventricular septal hypertrophy", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ventricular-septal-hypertrophy" } ], "related": [ { "slug": "bfsp1", "symbol": "BFSP1", "name": "beaded filament structural protein 1", "shared": 1, "url": "https://dantelabs.com/fr/genes/bfsp1" }, { "slug": "chmp4b", "symbol": "CHMP4B", "name": "charged multivesicular body protein 4B", "shared": 1, "url": "https://dantelabs.com/fr/genes/chmp4b" }, { "slug": "cryab", "symbol": "CRYAB", "name": "crystallin alpha B", "shared": 1, "url": "https://dantelabs.com/fr/genes/cryab" }, { "slug": "cryba1", "symbol": "CRYBA1", "name": "crystallin beta A1", "shared": 1, "url": "https://dantelabs.com/fr/genes/cryba1" }, { "slug": "cryba2", "symbol": "CRYBA2", "name": "crystallin beta A2", "shared": 1, "url": "https://dantelabs.com/fr/genes/cryba2" }, { "slug": "cryba4", "symbol": "CRYBA4", "name": "crystallin beta A4", "shared": 1, "url": "https://dantelabs.com/fr/genes/cryba4" }, { "slug": "crybb1", "symbol": "CRYBB1", "name": "crystallin beta B1", "shared": 1, "url": "https://dantelabs.com/fr/genes/crybb1" }, { "slug": "crybb3", "symbol": "CRYBB3", "name": "crystallin beta B3", "shared": 1, "url": "https://dantelabs.com/fr/genes/crybb3" }, { "slug": "crygs", "symbol": "CRYGS", "name": "crystallin gamma S", "shared": 1, "url": "https://dantelabs.com/fr/genes/crygs" }, { "slug": "epha2", "symbol": "EPHA2", "name": "EPH receptor A2", "shared": 1, "url": "https://dantelabs.com/fr/genes/epha2" }, { "slug": "gcnt2", "symbol": "GCNT2", "name": "glucosaminyl (N-acetyl) transferase 2 (I blood group)", "shared": 1, "url": "https://dantelabs.com/fr/genes/gcnt2" }, { "slug": "gja3", "symbol": "GJA3", "name": "gap junction protein alpha 3", "shared": 1, "url": "https://dantelabs.com/fr/genes/gja3" } ], "sources": { "bundleId": "2026.10.16-c6eea6bf", "panel": "2026-10-16", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }