{ "url": "https://dantelabs.com/fr/genes/pfn1", "gene": { "slug": "pfn1", "symbol": "PFN1", "name": "profilin 1", "hgnc": "HGNC:8881", "summary": null, "location": "17p13.2", "locusType": "gene with protein product", "aliases": [], "previousSymbols": [], "ensemblId": "ENSG00000108518", "entrezId": 5216, "omim": [ "176610" ], "uniprot": [ "P07737" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "17", "start": 4945652, "end": 4948530, "strand": "-", "ensemblTranscript": "ENST00000225655.6", "refseqTranscript": "NM_005022.4", "ensemblProtein": "ENSP00000225655.5", "refseqProtein": "NP_005013.1", "exons": [ { "start": 4945652, "end": 4945997 }, { "start": 4946628, "end": 4946820 }, { "start": 4948263, "end": 4948530 } ], "cds": { "start": 4945900, "end": 4948394 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "17", "start": 4848947, "end": 4852356, "strand": "-" }, "neighbourhood": { "release": "116", "start": 4447091, "end": 5447090, "genes": [ { "symbol": 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"ENSG00000182327", "biotype": "protein_coding", "start": 4788927, "end": 4790734, "strand": "+", "slug": "gltpd2" }, { "symbol": "PSMB6", "ensemblId": "ENSG00000142507", "biotype": "protein_coding", "start": 4796144, "end": 4798503, "strand": "+", "slug": "psmb6" }, { "symbol": "C17orf114", "ensemblId": "ENSG00000262165", "biotype": "protein_coding", "start": 4801159, "end": 4807013, "strand": "-", "slug": "c17orf114" }, { "symbol": "PLD2", "ensemblId": "ENSG00000129219", "biotype": "protein_coding", "start": 4807074, "end": 4823434, "strand": "+", "slug": "pld2" }, { "symbol": "MINK1", "ensemblId": "ENSG00000141503", "biotype": "protein_coding", "start": 4833147, "end": 4898065, "strand": "+", "slug": "mink1" }, { "symbol": "CHRNE", "ensemblId": "ENSG00000108556", "biotype": "protein_coding", "start": 4897769, "end": 4934438, "strand": "-", "slug": "chrne" }, { "symbol": "C17orf107", "ensemblId": "ENSG00000205710", "biotype": "protein_coding", "start": 4899418, "end": 4902934, 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"biotype": "protein_coding", "start": 4988130, "end": 4999117, "strand": "-", "slug": "inca1" }, { "symbol": "KIF1C", "ensemblId": "ENSG00000129250", "biotype": "protein_coding", "start": 4997629, "end": 5028401, "strand": "+", "slug": "kif1c" }, { "symbol": "SLC52A1", "ensemblId": "ENSG00000132517", "biotype": "protein_coding", "start": 5032600, "end": 5052009, "strand": "-", "slug": "slc52a1" }, { "symbol": "ZFP3", "ensemblId": "ENSG00000180787", "biotype": "protein_coding", "start": 5078241, "end": 5096376, "strand": "+", "slug": "zfp3" }, { "symbol": "ZNF232", "ensemblId": "ENSG00000167840", "biotype": "protein_coding", "start": 5105269, "end": 5123162, "strand": "-", "slug": "znf232" }, { "symbol": "USP6", "ensemblId": "ENSG00000129204", "biotype": "protein_coding", "start": 5116032, "end": 5175034, "strand": "+", "slug": "usp6" }, { "symbol": "ZNF594", "ensemblId": "ENSG00000180626", "biotype": "protein_coding", "start": 5174019, "end": 5191907, "strand": "-", "slug": "znf594" }, { "symbol": "SCIMP", "ensemblId": "ENSG00000161929", "biotype": "protein_coding", "start": 5208915, "end": 5234869, "strand": "-", "slug": "scimp" }, { "symbol": "RABEP1", "ensemblId": "ENSG00000029725", "biotype": "protein_coding", "start": 5282258, "end": 5386871, "strand": "+", "slug": "rabep1" }, { "symbol": "NUP88", "ensemblId": "ENSG00000108559", "biotype": "protein_coding", "start": 5359641, "end": 5420164, "strand": "-", "slug": "nup88" }, { "symbol": "RPAIN", "ensemblId": "ENSG00000129197", "biotype": "protein_coding", "start": 5419066, "end": 5432888, "strand": "+", "slug": "rpain" }, { "symbol": "C1QBP", "ensemblId": "ENSG00000108561", "biotype": "protein_coding", "start": 5432625, "end": 5448830, "strand": "-", "slug": "c1qbp" }, { "symbol": "DHX33", "ensemblId": "ENSG00000005100", "biotype": "protein_coding", "start": 5440917, "end": 5469031, "strand": "-", "slug": "dhx33" } ], "truncated": false }, "reports": [ { "slug": "amyotrophic-lateral-sclerosis", "name": "Sclérose latérale amyotrophique (SLA)", "diseases": [ { "mondoId": "MONDO:0004976", "name": "Sclérose latérale amyotrophique", "genes": 29, "inheritance": null, "description": "Un trouble neurodégénératif touchant les motoneurones supérieurs et inférieurs, se présentant sous des formes sporadiques ou familiales.", "management": "Tofersen (Qalsody, autorisation FDA 2023) pour la SLA liée à SOD1 ; essais d'ASO pour C9orf72 et FUS ; riluzole ; édaravone ; AMX0035 (phénylbutyrate de sodium-taurursodiol) ; prise en charge multidisciplinaire en centre expert SLA ; assistance respiratoire ; conseil génétique pour les membres de la famille", "evidence": { "gencc": [ "ClinGen", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/fr/conditions/amyotrophic-lateral-sclerosis" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormality-on-pulmonary-function-testing", "name": "Abnormality on pulmonary function testing", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-on-pulmonary-function-testing" }, { "slug": "anxiety", "name": "Anxiety", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/anxiety" }, { "slug": "babinski-sign", "name": "Babinski sign", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/babinski-sign" }, { "slug": "atypical-behavior", "name": "Behavioral abnormality", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/atypical-behavior" }, { "slug": "bone-fracture", "name": "Bone fracture", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bone-fracture" }, { "slug": "bone-pain", "name": "Bone pain", "systems": [ "abnormality-of-the-musculoskeletal-system", "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bone-pain" }, { "slug": "dyspnea", "name": "Breathing difficulty", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dyspnea" }, { "slug": "emotional-lability", "name": "Can't control feelings", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/emotional-lability" }, { "slug": "cognitive-impairment", "name": "Cognitive impairment", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cognitive-impairment" }, { "slug": "upper-limb-muscle-weakness", "name": "Decreased arm strength", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/upper-limb-muscle-weakness" }, { "slug": "xerostomia", "name": "Decreased salivary flow", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/xerostomia" }, { "slug": "osteoarthritis", "name": "Degenerative joint disease", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/osteoarthritis" }, { "slug": "depression", "name": "Depression", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/depression" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "sleep-disturbance", "name": "Difficulty sleeping", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sleep-disturbance" }, { "slug": "distal-amyotrophy", "name": "Distal muscle wasting", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/distal-amyotrophy" }, { "slug": "drooling", "name": "Drooling", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/drooling" }, { "slug": "elevated-circulating-alkaline-phosphatase-concentration", "name": "Elevated alkaline phosphatase", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-alkaline-phosphatase-concentration" }, { "slug": "fatigable-weakness-of-bulbar-muscles", "name": "Fatigable weakness of bulbar muscles", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/fatigable-weakness-of-bulbar-muscles" }, { "slug": "fatigable-weakness-of-respiratory-muscles", "name": "Fatigable weakness of respiratory muscles", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/fatigable-weakness-of-respiratory-muscles" }, { "slug": "fatigable-weakness-of-swallowing-muscles", "name": "Fatigable weakness of swallowing muscles", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/fatigable-weakness-of-swallowing-muscles" }, { "slug": "fatigue", "name": "Fatigue", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/fatigue" }, { "slug": "foot-dorsiflexor-weakness", "name": "Foot drop", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/foot-dorsiflexor-weakness" }, { "slug": "fractured-vertebra", "name": "Fractured vertebra", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/fractured-vertebra" }, { "slug": "frontotemporal-dementia", "name": "Frontotemporal dementia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/frontotemporal-dementia" }, { "slug": "generalized-muscle-weakness", "name": "Generalized muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/generalized-muscle-weakness" }, { "slug": "giant-cell-tumor-of-bone", "name": "Giant cell tumor of bone", "systems": [ "abnormality-of-the-musculoskeletal-system", "neoplasm" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/giant-cell-tumor-of-bone" }, { "slug": "headache", "name": "Headache", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/headache" }, { "slug": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hearing-impairment" }, { "slug": "steppage-gait", "name": "High stepping", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/steppage-gait" }, { "slug": "hip-osteoarthritis", "name": "Hip osteoarthritis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hip-osteoarthritis" }, { "slug": "hoffmann-sign", "name": "Hoffmann sign", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hoffmann-sign" }, { "slug": "dysphonia", "name": "Inability to produce voice sounds", "systems": [ "abnormality-of-the-voice" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysphonia" }, { "slug": "hyperreflexia", "name": "Increased reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperreflexia" }, { "slug": "spasticity", "name": "Involuntary muscle stiffness, contraction, or spasm", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/spasticity" }, { "slug": "jaw-hyperreflexia", "name": "Jaw hyperreflexia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/jaw-hyperreflexia" }, { "slug": "knee-osteoarthritis", "name": "Knee osteoarthritis", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/knee-osteoarthritis" }, { "slug": "language-impairment", "name": "Language impairment", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/language-impairment" }, { "slug": "laryngospasm", "name": "Laryngospasm", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/laryngospasm" }, { "slug": "amyotrophic-lateral-sclerosis", "name": "Lou Gehrig's disease", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/amyotrophic-lateral-sclerosis" }, { "slug": "lower-limb-muscle-weakness", "name": "Lower limb muscle weakness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lower-limb-muscle-weakness" }, { "slug": "motor-neuron-atrophy", "name": "Motor neuron atrophy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/motor-neuron-atrophy" }, { "slug": "skeletal-muscle-atrophy", "name": "Muscle degeneration", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy" }, { "slug": "muscle-spasm", "name": "Muscle spasm", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/muscle-spasm" }, { "slug": "fasciculations", "name": "Muscle twitch", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/fasciculations" }, { "slug": "muscle-weakness", "name": "Muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/muscle-weakness" }, { "slug": "neurodegeneration", "name": "Ongoing loss of nerve cells", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/neurodegeneration" }, { "slug": "orthopnea", "name": "Orthopnea", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/orthopnea" }, { "slug": "pagetic-bone-lesion", "name": "Pagetic bone lesion", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pagetic-bone-lesion" }, { "slug": "pain", "name": "Pain", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pain" }, { "slug": "paralysis", "name": "Paralysis", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/paralysis" }, { "slug": "dysphagia", "name": "Poor swallowing", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysphagia" }, { "slug": "progressive-distal-muscular-atrophy", "name": "Progressive distal muscular atrophy", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/progressive-distal-muscular-atrophy" }, { "slug": "respiratory-failure", "name": "Respiratory failure", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/respiratory-failure" }, { "slug": "spastic-paraparesis", "name": "Spastic paraparesis", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/spastic-paraparesis" }, { "slug": "tongue-fasciculations", "name": "Tongue twitching", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tongue-fasciculations" }, { "slug": "tongue-atrophy", "name": "Wasting of the tongue", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/tongue-atrophy" }, { "slug": "cachexia", "name": "Wasting syndrome", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cachexia" }, { "slug": "weight-loss", "name": "Weight loss", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/weight-loss" } ], "related": [ { "slug": "als2", "symbol": "ALS2", "name": "alsin Rho guanine nucleotide exchange factor ALS2", "shared": 1, "url": "https://dantelabs.com/fr/genes/als2" }, { "slug": "ang", "symbol": "ANG", "name": "angiogenin", "shared": 1, "url": "https://dantelabs.com/fr/genes/ang" }, { "slug": "anxa11", "symbol": "ANXA11", "name": "annexin A11", "shared": 1, "url": "https://dantelabs.com/fr/genes/anxa11" }, { "slug": "c9orf72", "symbol": "C9orf72", "name": "C9orf72-SMCR8 complex subunit", "shared": 1, "url": "https://dantelabs.com/fr/genes/c9orf72" }, { "slug": "ccnf", "symbol": "CCNF", "name": "cyclin F", "shared": 1, "url": "https://dantelabs.com/fr/genes/ccnf" }, { "slug": "chchd10", "symbol": "CHCHD10", "name": "coiled-coil-helix-coiled-coil-helix domain containing 10", "shared": 1, "url": "https://dantelabs.com/fr/genes/chchd10" }, { "slug": "chmp2b", "symbol": "CHMP2B", "name": "charged multivesicular body protein 2B", "shared": 1, "url": "https://dantelabs.com/fr/genes/chmp2b" }, { "slug": "cyld", "symbol": "CYLD", "name": "CYLD lysine 63 deubiquitinase", "shared": 1, "url": "https://dantelabs.com/fr/genes/cyld" }, { "slug": "dctn1", "symbol": "DCTN1", "name": "dynactin subunit 1", "shared": 1, "url": "https://dantelabs.com/fr/genes/dctn1" }, { "slug": "erbb4", "symbol": "ERBB4", "name": "erb-b2 receptor tyrosine kinase 4", "shared": 1, "url": "https://dantelabs.com/fr/genes/erbb4" }, { "slug": "fig4", "symbol": "FIG4", "name": "FIG4 phosphoinositide 5-phosphatase", "shared": 1, "url": "https://dantelabs.com/fr/genes/fig4" }, { "slug": "fus", "symbol": "FUS", "name": "FUS RNA binding protein", "shared": 1, "url": "https://dantelabs.com/fr/genes/fus" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }