{ "url": "https://dantelabs.com/fr/genes/ighmbp2", "gene": { "slug": "ighmbp2", "symbol": "IGHMBP2", "name": "immunoglobulin mu DNA binding protein 2", "hgnc": "HGNC:5542", "summary": null, "location": "11q13.3", "locusType": "gene with protein product", "aliases": [ "ZFAND7", "SMUBP2", "CATF1", "SMARD1", "HCSA", "HMN6", "CMT2S" ], "previousSymbols": [], "ensemblId": "ENSG00000132740", "entrezId": 3508, "omim": [ "600502" ], "uniprot": [ "P38935" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "11", "start": 68903891, "end": 68940601, "strand": "+", "ensemblTranscript": "ENST00000255078.8", "refseqTranscript": "NM_002180.3", "ensemblProtein": "ENSP00000255078.4", "refseqProtein": "NP_002171.2", "exons": [ { "start": 68903891, "end": 68904038 }, { "start": 68906069, "end": 68906238 }, { "start": 68908145, "end": 68908337 }, { "start": 68908534, "end": 68908631 }, { "start": 68911440, "end": 68911603 }, { "start": 68914823, "end": 68915023 }, { "start": 68917736, "end": 68917883 }, { "start": 68929183, "end": 68929357 }, { "start": 68933299, "end": 68933481 }, { "start": 68933795, "end": 68933913 }, { "start": 68934464, "end": 68934558 }, { "start": 68935299, "end": 68935422 }, { "start": 68936237, "end": 68937091 }, { "start": 68938182, "end": 68938354 }, { "start": 68939534, "end": 68940601 } ], "cds": { "start": 68903953, "end": 68939731 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "11", "start": 68671310, "end": 68708070, "strand": "+" }, "neighbourhood": { "release": "116", "start": 68422246, "end": 69422245, "genes": [ { "symbol": "LRP5", "ensemblId": "ENSG00000162337", "biotype": "protein_coding", "start": 68312430, "end": 68449275, "strand": "+", "slug": "lrp5" }, { "symbol": "PPP6R3", "ensemblId": "ENSG00000110075", "biotype": "protein_coding", "start": 68460475, "end": 68615343, "strand": "+", "slug": "ppp6r3" }, { "symbol": "GAL", "ensemblId": "ENSG00000069482", "biotype": "protein_coding", "start": 68683020, "end": 68691205, "strand": "+", "slug": "gal" }, { "symbol": "TESMIN", "ensemblId": "ENSG00000132749", "biotype": "protein_coding", "start": 68705313, "end": 68751569, "strand": "-", "slug": "tesmin" }, { "symbol": "CPT1A", "ensemblId": "ENSG00000110090", "biotype": "protein_coding", "start": 68754620, "end": 68844410, "strand": "-", "slug": "cpt1a" }, { "symbol": "MRPL21", "ensemblId": "ENSG00000197345", "biotype": "protein_coding", "start": 68862382, "end": 68903841, "strand": "-", "slug": "mrpl21" }, { "symbol": "MRGPRD", "ensemblId": "ENSG00000172938", "biotype": "protein_coding", "start": 68980021, "end": 68980986, "strand": "-", "slug": "mrgprd" }, { "symbol": "MRGPRF", "ensemblId": "ENSG00000172935", "biotype": "protein_coding", "start": 69004376, "end": 69014407, "strand": "-", "slug": "mrgprf" }, { "symbol": "TPCN2", "ensemblId": "ENSG00000162341", "biotype": "protein_coding", "start": 69048844, "end": 69136317, "strand": "+", "slug": "tpcn2" }, { "symbol": "", "ensemblId": "ENSG00000287725", "biotype": "protein_coding", "start": 69072915, "end": 69162440, "strand": "+" }, { "symbol": "SMIM38", "ensemblId": "ENSG00000284713", "biotype": "protein_coding", "start": 69155478, "end": 69162440, "strand": "+", "slug": "smim38" }, { "symbol": "MYEOV", "ensemblId": "ENSG00000172927", "biotype": "protein_coding", "start": 69294114, "end": 69341682, "strand": "+", "slug": "myeov" } ], "truncated": false }, "reports": [ { "slug": "charcot-marie-tooth-disease-type-1", "name": "Maladie de Charcot-Marie-Tooth", "diseases": [ { "mondoId": "MONDO:0018894", "name": "Neuropathie motrice héréditaire distale", "genes": 22, "inheritance": null, "description": "Neuropathies héréditaires touchant principalement les nerfs moteurs, provoquant une faiblesse et une atrophie des mains et des pieds, y compris la neuropathie liée à SORD.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0015626", "name": "Maladie de Charcot-Marie-Tooth", "genes": 62, "inheritance": null, "description": "Un groupe de neuropathies périphériques héréditaires provoquant une faiblesse et une fonte progressives des muscles distaux ainsi qu'une perte de sensibilité, touchant principalement les pieds et les mains.", "management": "Conseil génétique, suivi spécifique au sous-type, kinésithérapie, orthèses, éviction des médicaments neurotoxiques, essais cliniques ciblant des gènes spécifiques, surveillance des manifestations associées", "evidence": { "gencc": [ "Ambry Genetics", "Labcorp Genetics (formerly Invitae)", "Laboratory for Molecular Medicine" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/fr/conditions/charcot-marie-tooth-disease-type-1" }, { "slug": "spinal-muscular-atrophy", "name": "Amyotrophie spinale", "diseases": [ { "mondoId": "MONDO:0001516", "name": "Amyotrophie spinale", "genes": 28, "inheritance": null, "description": "Groupe d'affections caractérisées par la dégénérescence des cellules de la corne antérieure de la moelle épinière, entraînant une faiblesse et une atrophie musculaires progressives.", "management": "Thérapie génique (onasemnogene abeparvovec), traitement par oligonucléotides antisens (nusinersen), modulateur d'épissage par voie orale (risdiplam), soins de support", "evidence": { "gencc": [ "Ambry Genetics", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/fr/conditions/spinal-muscular-atrophy" }, { "slug": "inherited-neurodegenerative-disorders-selected-genes", "name": "Maladies neurodégénératives héréditaires", "diseases": [ { "mondoId": "MONDO:0024237", "name": "Maladie neurodégénérative liée à KIF5A", "genes": 372, "inheritance": "autosomal-dominant", "description": "Causée par des modifications d'une copie du gène KIF5A, qui code une protéine motrice dotée d'une queue de liaison à sa cargaison. Différents types de modifications entraînent différentes affections : la paraplégie spastique héréditaire de type 10, une forme axonale de la maladie de Charcot-Marie-Tooth et la sclérose latérale amyotrophique (SLA).", "management": "La prise en charge est symptomatique et dépend de la forme clinique ; elle comprend la kinésithérapie, des médicaments contre la spasticité et un suivi pluridisciplinaire de la SLA. Chaque enfant d'une personne atteinte a une chance sur 2 d'hériter de la modification ; le conseil génétique aide les familles à comprendre ce risque.", "evidence": { "gencc": [ "Ambry Genetics", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/fr/conditions/inherited-neurodegenerative-disorders-selected-genes" }, { "slug": "rare-hereditary-peripheral-neuropathies", "name": "Neuropathies périphériques héréditaires rares", "diseases": [ { "mondoId": "MONDO:0020127", "name": "Neuropathie périphérique héréditaire", "genes": 233, "inheritance": null, "description": "Causée par des modifications dans l'un des nombreux gènes nécessaires au maintien en bon état des longues fibres nerveuses. Dans ce rapport, ces gènes comprennent IGHMBP2 et PLEKHG5, dont la transmission est récessive.", "management": "La kinésithérapie, les orthèses et l'ergothérapie aident à préserver la mobilité, avec une chirurgie des déformations du pied si nécessaire. Certaines formes nécessitent une surveillance respiratoire. Le conseil génétique oriente le dépistage familial selon le mode de transmission du gène concerné.", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "Laboratory for Molecular Medicine", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/fr/conditions/rare-hereditary-peripheral-neuropathies" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/gait-disturbance" }, { "slug": "areflexia-of-lower-limbs", "name": "Areflexia of lower limbs", "systems": [ "abnormality-of-limbs", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/areflexia-of-lower-limbs" }, { "slug": "areflexia-of-upper-limbs", "name": "Areflexia of upper limbs", "systems": [ "abnormality-of-limbs", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/areflexia-of-upper-limbs" }, { "slug": "axonal-degeneration", "name": "Axonal degeneration", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/axonal-degeneration" }, { "slug": "talipes-equinovarus", "name": "Club feet", "systems": [ "abnormality-of-limbs" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/talipes-equinovarus" }, { "slug": "constipation", "name": "Constipation", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/constipation" }, { "slug": "upper-limb-muscle-weakness", "name": "Decreased arm strength", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/upper-limb-muscle-weakness" }, { "slug": "decreased-nerve-conduction-velocity", "name": "Decreased nerve conduction velocity", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/decreased-nerve-conduction-velocity" }, { "slug": "hyporeflexia", "name": "Decreased reflex response", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/hyporeflexia" }, { "slug": "distal-sensory-impairment", "name": "Decreased sensation in extremities", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/distal-sensory-impairment" }, { "slug": "degeneration-of-anterior-horn-cells", "name": "Degeneration of anterior horn cells", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/degeneration-of-anterior-horn-cells" }, { "slug": "denervation-of-the-diaphragm", "name": "Denervation of the diaphragm", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/denervation-of-the-diaphragm" }, { "slug": "diaphragmatic-eventration", "name": "Diaphragmatic eventration", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/diaphragmatic-eventration" }, { "slug": "diaphragmatic-paralysis", "name": "Diaphragmatic paralysis", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/diaphragmatic-paralysis" }, { "slug": "distal-amyotrophy", "name": "Distal muscle wasting", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/distal-amyotrophy" }, { "slug": "emg-neuropathic-changes", "name": "EMG: neuropathic changes", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/emg-neuropathic-changes" }, { "slug": "hyperhidrosis", "name": "Excessive sweating", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/hyperhidrosis" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "foot-dorsiflexor-weakness", "name": "Foot drop", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/foot-dorsiflexor-weakness" }, { "slug": "steppage-gait", "name": "High stepping", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/steppage-gait" }, { "slug": "tachypnea", "name": "Increased respiratory rate or depth of breathing", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/tachypnea" }, { "slug": "inspiratory-stridor", "name": "Inspiratory stridor", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/inspiratory-stridor" }, { "slug": "decreased-fetal-movement", "name": "Less than 10 fetal movements in 12 hours", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "url": "https://dantelabs.com/traits/decreased-fetal-movement" }, { "slug": "limb-muscle-weakness", "name": "Limb muscle weakness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/limb-muscle-weakness" }, { "slug": "urinary-incontinence", "name": "Loss of bladder control", "systems": [ "abnormality-of-the-genitourinary-system", "constitutional-symptom" ], "url": "https://dantelabs.com/traits/urinary-incontinence" }, { "slug": "neonatal-hypotonia", "name": "Low muscle tone, in neonatal onset", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/neonatal-hypotonia" }, { "slug": "lower-limb-muscle-weakness", "name": "Lower limb muscle weakness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/lower-limb-muscle-weakness" }, { "slug": "sensorimotor-neuropathy", "name": "Nerve damage causing decreased feeling and movement", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/sensorimotor-neuropathy" }, { "slug": "peripheral-axonal-degeneration", "name": "Peripheral axonal degeneration", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/peripheral-axonal-degeneration" }, { "slug": "camptodactyly-of-finger", "name": "Permanent flexion of the finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/camptodactyly-of-finger" }, { "slug": "premature-birth", "name": "Premature birth", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "url": "https://dantelabs.com/traits/premature-birth" }, { "slug": "intrauterine-growth-retardation", "name": "Prenatal growth deficiency", "systems": [ "growth-abnormality" ], "url": "https://dantelabs.com/traits/intrauterine-growth-retardation" }, { "slug": "proximal-muscle-weakness", "name": "Proximal neurogenic muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/proximal-muscle-weakness" }, { "slug": "respiratory-failure", "name": "Respiratory failure", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/respiratory-failure" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "small-for-gestational-age", "name": "Small for gestational age", "systems": [ "growth-abnormality" ], "url": "https://dantelabs.com/traits/small-for-gestational-age" }, { "slug": "spinal-muscular-atrophy", "name": "Spinal muscle degeneration", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/spinal-muscular-atrophy" }, { "slug": "ventilator-dependence-with-inability-to-wean", "name": "Ventilator dependence with inability to wean", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/ventilator-dependence-with-inability-to-wean" }, { "slug": "tongue-atrophy", "name": "Wasting of the tongue", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tongue-atrophy" }, { "slug": "weak-cry", "name": "Weak cry", "systems": [ "abnormality-of-the-voice" ], "url": "https://dantelabs.com/traits/weak-cry" }, { "slug": "diaphragmatic-weakness", "name": "Weak diaphragm", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/diaphragmatic-weakness" }, { "slug": "distal-muscle-weakness", "name": "Weakness of outermost muscles", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/distal-muscle-weakness" } ], "related": [ { "slug": "dync1h1", "symbol": "DYNC1H1", "name": "dynein cytoplasmic 1 heavy chain 1", "shared": 5, "url": "https://dantelabs.com/fr/genes/dync1h1" }, { "slug": "gars1", "symbol": "GARS1", "name": "glycyl-tRNA synthetase 1", "shared": 5, "url": "https://dantelabs.com/fr/genes/gars1" }, { "slug": "hspb8", "symbol": "HSPB8", "name": "heat shock protein family B (small) member 8", "shared": 5, "url": "https://dantelabs.com/fr/genes/hspb8" }, { "slug": "plekhg5", "symbol": "PLEKHG5", "name": "pleckstrin homology and RhoGEF domain containing G5", "shared": 5, "url": "https://dantelabs.com/fr/genes/plekhg5" }, { "slug": "atp7a", "symbol": "ATP7A", "name": "ATPase copper transporting alpha", "shared": 4, "url": "https://dantelabs.com/fr/genes/atp7a" }, { "slug": "bscl2", "symbol": "BSCL2", "name": "BSCL2 lipid droplet biogenesis associated, seipin", "shared": 4, "url": "https://dantelabs.com/fr/genes/bscl2" }, { "slug": "dctn1", "symbol": "DCTN1", "name": "dynactin subunit 1", "shared": 4, "url": "https://dantelabs.com/fr/genes/dctn1" }, { "slug": "dnajb2", "symbol": "DNAJB2", "name": "DnaJ heat shock protein family (Hsp40) member B2", "shared": 4, "url": "https://dantelabs.com/fr/genes/dnajb2" }, { "slug": "emilin1", "symbol": "EMILIN1", "name": "elastin microfibril interfacer 1", "shared": 4, "url": "https://dantelabs.com/fr/genes/emilin1" }, { "slug": "fbxo38", "symbol": "FBXO38", "name": "F-box protein 38", "shared": 4, "url": "https://dantelabs.com/fr/genes/fbxo38" }, { "slug": "reep1", "symbol": "REEP1", "name": "receptor accessory protein 1", "shared": 4, "url": "https://dantelabs.com/fr/genes/reep1" }, { "slug": "sigmar1", "symbol": "SIGMAR1", "name": "sigma receptor chaperone 1", "shared": 4, "url": "https://dantelabs.com/fr/genes/sigmar1" } ], "sources": { "bundleId": "2026.10.19-9814e911", "panel": "2026-10-19", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }