{ "url": "https://dantelabs.com/da/genes/inf2", "gene": { "slug": "inf2", "symbol": "INF2", "name": "inverted formin 2", "hgnc": "HGNC:23791", "summary": null, "location": "14q32.33", "locusType": "gene with protein product", "aliases": [ "MGC13251" ], "previousSymbols": [ "C14orf151", "C14orf173" ], "ensemblId": "ENSG00000203485", "entrezId": 64423, "omim": [ "610982" ], "uniprot": [ "Q27J81" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "14", "start": 104689618, "end": 104722535, "strand": "+", "ensemblTranscript": "ENST00000392634.9", "refseqTranscript": "NM_022489.4", "ensemblProtein": "ENSP00000376410.4", "refseqProtein": "NP_071934.3", "exons": [ { "start": 104689618, "end": 104689739 }, { "start": 104701357, "end": 104701756 }, { "start": 104703105, "end": 104703220 }, { "start": 104703295, "end": 104703454 }, { "start": 104703916, "end": 104703949 }, { "start": 104706035, "end": 104706176 }, { "start": 104706910, "end": 104707051 }, { "start": 104707253, "end": 104708002 }, { "start": 104708436, "end": 104708587 }, { "start": 104708671, "end": 104708732 }, { "start": 104709281, "end": 104709383 }, { "start": 104709620, "end": 104709705 }, { "start": 104710088, "end": 104710188 }, { "start": 104710937, "end": 104711007 }, { "start": 104711079, "end": 104711186 }, { "start": 104711629, "end": 104711699 }, { "start": 104712433, "end": 104712553 }, { "start": 104712828, "end": 104712992 }, { "start": 104713207, "end": 104713309 }, { "start": 104713445, "end": 104713606 }, { "start": 104714203, "end": 104714856 }, { "start": 104715284, "end": 104715340 }, { "start": 104718795, "end": 104722535 } ], "cds": { "start": 104701366, "end": 104715339 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "14", "start": 105155943, "end": 105185942, "strand": "+" }, "neighbourhood": { "release": "116", "start": 104206077, "end": 105206076, "genes": [ { "symbol": "TMEM179", "ensemblId": "ENSG00000258986", "biotype": "protein_coding", "start": 104474678, "end": 104605647, "strand": "-", "slug": "tmem179" }, { "symbol": "C14orf180", "ensemblId": "ENSG00000184601", "biotype": "protein_coding", "start": 104579550, "end": 104590515, "strand": "+", "slug": "c14orf180" }, { "symbol": "ADSS1", "ensemblId": "ENSG00000185100", "biotype": "protein_coding", "start": 104724174, "end": 104747523, "strand": "+", "slug": "adss1" }, { "symbol": "SIVA1", "ensemblId": "ENSG00000184990", "biotype": "protein_coding", "start": 104753122, "end": 104768494, "strand": "+", "slug": "siva1" }, { "symbol": "AKT1", "ensemblId": "ENSG00000142208", "biotype": "protein_coding", "start": 104769348, "end": 104799934, "strand": "-", "slug": "akt1" }, { "symbol": "ZBTB42", "ensemblId": "ENSG00000179627", "biotype": "protein_coding", "start": 104799415, "end": 104804712, "strand": "+", "slug": "zbtb42" }, { "symbol": "CEP170B", "ensemblId": "ENSG00000099814", "biotype": "protein_coding", "start": 104864498, "end": 104896770, "strand": "+", "slug": "cep170b" }, { "symbol": "PLD4", "ensemblId": "ENSG00000166428", "biotype": "protein_coding", "start": 104924713, "end": 104937784, "strand": "+", "slug": "pld4" }, { "symbol": "AHNAK2", "ensemblId": "ENSG00000185567", "biotype": "protein_coding", "start": 104937244, "end": 104978374, "strand": "-", "slug": "ahnak2" }, { "symbol": "CLBA1", "ensemblId": "ENSG00000140104", "biotype": "protein_coding", "start": 104985758, "end": 105010482, "strand": "+", "slug": "clba1" }, { "symbol": "CDCA4", "ensemblId": "ENSG00000170779", "biotype": "protein_coding", "start": 105008532, "end": 105033828, "strand": "-", "slug": "cdca4" }, { "symbol": "GPR132", "ensemblId": "ENSG00000183484", "biotype": "protein_coding", "start": 105048658, "end": 105065940, "strand": "-", "slug": "gpr132" }, { "symbol": "JAG2", "ensemblId": "ENSG00000184916", "biotype": "protein_coding", "start": 105140982, "end": 105168919, "strand": "-", "slug": "jag2" }, { "symbol": "NUDT14", "ensemblId": "ENSG00000183828", "biotype": "protein_coding", "start": 105172937, "end": 105181323, "strand": "-", "slug": "nudt14" } ], "truncated": false }, "reports": [ { "slug": "focal-segmental-glomerulosclerosis", "name": "Fokal segmentel glomerulosklerose", "diseases": [ { "mondoId": "MONDO:0100313", "name": "Fokal segmentel glomerulosklerose", "genes": 8, "inheritance": null, "description": "En nyrelidelse, der kendetegnes ved sklerotiske læsioner i glomeruli. Årsagerne omfatter lægemidler, virus og maligniteter (lymfomer), eller sygdommen kan være idiopatisk. Den viser sig med asymptomatisk proteinuri eller nefritisk syndrom og kan føre til nyresvigt.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/da/conditions/focal-segmental-glomerulosclerosis" }, { "slug": "glomerulosclerosis", "name": "Glomerulosklerose", "diseases": [ { "mondoId": "MONDO:0000490", "name": "Glomerulosklerose", "genes": 8, "inheritance": null, "description": "En forhårdning af nyrens glomerulus forårsaget af arvævsdannelse i blodkarrene.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/da/conditions/glomerulosclerosis" }, { "slug": "charcot-marie-tooth-disease-type-1", "name": "Charcot-Marie-Tooth-sygdom", "diseases": [ { "mondoId": "MONDO:0015626", "name": "Charcot-Marie-Tooth sygdom", "genes": 62, "inheritance": null, "description": "En gruppe arvelige perifere neuropatier, der forårsager progressiv svaghed og tab af muskelmasse i de distale muskler samt nedsat følesans, hovedsagelig i fødder og hænder.", "management": "Genetisk rådgivning, undersøgelser tilpasset undertypen, fysioterapi, ortopædiske hjælpemidler, undgåelse af neurotoksiske lægemidler, genspecifikke kliniske forsøg og overvågning for tilhørende symptomer", "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/da/conditions/charcot-marie-tooth-disease-type-1" }, { "slug": "rare-hereditary-peripheral-neuropathies", "name": "Sjældne arvelige perifere neuropatier", "diseases": [ { "mondoId": "MONDO:0020127", "name": "Arvelig perifer neuropati", "genes": 233, "inheritance": null, "description": "Forårsaget af ændringer i et af de mange gener, der er nødvendige for at holde de lange nervefibre sunde. I denne rapport omfatter disse IGHMBP2 og PLEKHG5, som er recessive.", "management": "Fysioterapi, ortoser og ergoterapi hjælper med at bevare mobiliteten, og kirurgi kan overvejes ved fodmisdannelser. Nogle former kræver overvågning af vejrtrækningen. Genetisk rådgivning vejleder test af familien ud fra arvegangen for det pågældende gen.", "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/da/conditions/rare-hereditary-peripheral-neuropathies" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abdominal-pain", "name": "Abdominal pain", "systems": [ "abnormality-of-the-digestive-system", "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abdominal-pain" }, { "slug": "abnormality-of-the-nervous-system", "name": "Abnormality of the nervous system", "systems": [], "frequency": "very-rare", "url": "https://dantelabs.com/traits/abnormality-of-the-nervous-system" }, { "slug": "areflexia", "name": "Absent reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/areflexia" }, { "slug": "axonal-loss", "name": "Axonal loss", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/axonal-loss" }, { "slug": "chronic-kidney-disease", "name": "Chronic kidney disease", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/chronic-kidney-disease" }, { "slug": "claw-hand-deformity", "name": "Claw hand deformity", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/claw-hand-deformity" }, { "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" ], "url": "https://dantelabs.com/traits/distal-sensory-impairment" }, { "slug": "diffuse-mesangial-sclerosis", "name": "Diffuse mesangial sclerosis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/diffuse-mesangial-sclerosis" }, { "slug": "distal-lower-limb-amyotrophy", "name": "Distal lower limb amyotrophy", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/distal-lower-limb-amyotrophy" }, { "slug": "distal-upper-limb-amyotrophy", "name": "Distal upper limb amyotrophy", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/distal-upper-limb-amyotrophy" }, { "slug": "elevated-circulating-creatine-kinase-activity", "name": "Elevated blood creatine phosphokinase", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity" }, { "slug": "fever", "name": "Fever", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/fever" }, { "slug": "edema", "name": "Fluid retention", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/edema" }, { "slug": "foamy-urine", "name": "Foamy urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/foamy-urine" }, { "slug": "focal-segmental-glomerulosclerosis", "name": "Focal segmental glomerulosclerosis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/focal-segmental-glomerulosclerosis" }, { "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": "hammertoe", "name": "Hammertoe", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/hammertoe" }, { "slug": "headache", "name": "Headache", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/headache" }, { "slug": "hypertension", "name": "High blood pressure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/hypertension" }, { "slug": "steppage-gait", "name": "High stepping", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/steppage-gait" }, { "slug": "proteinuria", "name": "High urine protein levels", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/proteinuria" }, { "slug": "pes-cavus", "name": "High-arched foot", "systems": [ "abnormality-of-limbs" ], "url": "https://dantelabs.com/traits/pes-cavus" }, { "slug": "irritability", "name": "Irritability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/irritability" }, { "slug": "hypoalbuminemia", "name": "Low albumin", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypoalbuminemia" }, { "slug": "minimal-change-glomerulonephritis", "name": "Minimal change glomerulonephritis", "systems": [ "abnormality-of-the-genitourinary-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/minimal-change-glomerulonephritis" }, { "slug": "onion-bulb-formation", "name": "Onion bulb formation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/onion-bulb-formation" }, { "slug": "periorbital-edema", "name": "Periorbital edema", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/periorbital-edema" }, { "slug": "peripheral-neuropathy", "name": "Peripheral neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/peripheral-neuropathy" }, { "slug": "peritonitis", "name": "Peritonitis", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/peritonitis" }, { "slug": "respiratory-tract-infection", "name": "Respiratory tract infection", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/respiratory-tract-infection" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "microscopic-hematuria", "name": "Small amount of blood in urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/microscopic-hematuria" }, { "slug": "stage-5-chronic-kidney-disease", "name": "Stage 5 chronic kidney disease", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/stage-5-chronic-kidney-disease" }, { "slug": "distal-muscle-weakness", "name": "Weakness of outermost muscles", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/distal-muscle-weakness" } ], "related": [ { "slug": "aars1", "symbol": "AARS1", "name": "alanyl-tRNA synthetase 1", "shared": 2, "url": "https://dantelabs.com/da/genes/aars1" }, { "slug": "actn4", "symbol": "ACTN4", "name": "actinin alpha 4", "shared": 2, "url": "https://dantelabs.com/da/genes/actn4" }, { "slug": "aifm1", "symbol": "AIFM1", "name": "apoptosis inducing factor mitochondria associated 1", "shared": 2, "url": "https://dantelabs.com/da/genes/aifm1" }, { "slug": "anln", "symbol": "ANLN", "name": "anillin, actin binding protein", "shared": 2, "url": "https://dantelabs.com/da/genes/anln" }, { "slug": "atp1a1", "symbol": "ATP1A1", "name": "ATPase Na+/K+ transporting subunit alpha 1", "shared": 2, "url": "https://dantelabs.com/da/genes/atp1a1" }, { "slug": "cadm3", "symbol": "CADM3", "name": "cell adhesion molecule 3", "shared": 2, "url": "https://dantelabs.com/da/genes/cadm3" }, { "slug": "cox6a1", "symbol": "COX6A1", "name": "cytochrome c oxidase subunit 6A1", "shared": 2, "url": "https://dantelabs.com/da/genes/cox6a1" }, { "slug": "crb2", "symbol": "CRB2", "name": "crumbs cell polarity complex component 2", "shared": 2, "url": "https://dantelabs.com/da/genes/crb2" }, { "slug": "dhtkd1", "symbol": "DHTKD1", "name": "dehydrogenase E1 and transketolase domain containing 1", "shared": 2, "url": "https://dantelabs.com/da/genes/dhtkd1" }, { "slug": "dhx9", "symbol": "DHX9", "name": "DExH-box helicase 9", "shared": 2, "url": "https://dantelabs.com/da/genes/dhx9" }, { "slug": "dnm2", "symbol": "DNM2", "name": "dynamin 2", "shared": 2, "url": "https://dantelabs.com/da/genes/dnm2" }, { "slug": "drp2", "symbol": "DRP2", "name": "dystrophin related protein 2", "shared": 2, "url": "https://dantelabs.com/da/genes/drp2" } ], "sources": { "bundleId": "2026.10.18-8b139e39", "panel": "2026-10-18", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }