{ "url": "https://dantelabs.com/da/genes/crlf1", "gene": { "slug": "crlf1", "symbol": "CRLF1", "name": "cytokine receptor like factor 1", "hgnc": "HGNC:2364", "summary": null, "location": "19p12", "locusType": "gene with protein product", "aliases": [ "CLF-1", "CLF", "CISS", "CISS1" ], "previousSymbols": [], "ensemblId": "ENSG00000006016", "entrezId": 9244, "omim": [ "604237" ], "uniprot": [ "O75462" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "19", "start": 18593237, "end": 18606799, "strand": "-", "ensemblTranscript": "ENST00000392386.8", "refseqTranscript": "NM_004750.5", "ensemblProtein": "ENSP00000376188.2", "refseqProtein": "NP_004741.1", "exons": [ { "start": 18593237, "end": 18593579 }, { "start": 18594065, "end": 18594107 }, { "start": 18594247, "end": 18594434 }, { "start": 18596622, "end": 18596790 }, { "start": 18596892, "end": 18597049 }, { "start": 18598432, "end": 18598601 }, { "start": 18598772, "end": 18598901 }, { "start": 18599565, "end": 18599846 }, { "start": 18606542, "end": 18606799 } ], "cds": { "start": 18593566, "end": 18606656 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "19", "start": 18683030, "end": 18718551, "strand": "-" }, "neighbourhood": { "release": "116", "start": 18100018, "end": 19100017, "genes": [ { "symbol": "MAST3", "ensemblId": "ENSG00000099308", "biotype": "protein_coding", "start": 18097749, "end": 18151692, "strand": "+", "slug": "mast3" }, { "symbol": "PIK3R2", "ensemblId": "ENSG00000105647", "biotype": "protein_coding", "start": 18153155, "end": 18170541, "strand": "+", "slug": "pik3r2" }, { "symbol": "", "ensemblId": "ENSG00000268173", "biotype": "protein_coding", "start": 18153158, "end": 18178117, "strand": "+" }, { "symbol": "IFI30", "ensemblId": "ENSG00000216490", "biotype": "protein_coding", "start": 18173150, "end": 18178122, "strand": "+", "slug": "ifi30" }, { "symbol": "MPV17L2", "ensemblId": "ENSG00000254858", "biotype": "protein_coding", "start": 18193197, "end": 18196948, "strand": "+", "slug": "mpv17l2" }, { "symbol": "RAB3A", "ensemblId": "ENSG00000105649", "biotype": "protein_coding", "start": 18196752, "end": 18204055, "strand": "-", "slug": "rab3a" }, { "symbol": "PDE4C", "ensemblId": "ENSG00000285188", "biotype": "protein_coding", "start": 18207961, "end": 18255419, "strand": "-" }, { "symbol": "PDE4C", "ensemblId": "ENSG00000105650", "biotype": "protein_coding", "start": 18207965, "end": 18248200, "strand": "-", "slug": "pde4c" }, { "symbol": "CIST1", "ensemblId": "ENSG00000284797", "biotype": "protein_coding", "start": 18249950, "end": 18255400, "strand": "-", "slug": "cist1" }, { "symbol": "IQCN", "ensemblId": "ENSG00000130518", "biotype": "protein_coding", "start": 18257098, "end": 18274500, "strand": "-", "slug": "iqcn" }, { "symbol": "JUND", "ensemblId": "ENSG00000130522", "biotype": "protein_coding", "start": 18279694, "end": 18281622, "strand": "-", "slug": "jund" }, { "symbol": "LSM4", "ensemblId": "ENSG00000130520", "biotype": "protein_coding", "start": 18306231, "end": 18323112, "strand": "-", "slug": "lsm4" }, { "symbol": "PGPEP1", "ensemblId": "ENSG00000130517", "biotype": "protein_coding", "start": 18340562, "end": 18369950, "strand": "+", "slug": "pgpep1" }, { "symbol": "GDF15", "ensemblId": "ENSG00000130513", "biotype": "protein_coding", "start": 18374731, "end": 18389176, "strand": "+", "slug": "gdf15" }, { "symbol": "LRRC25", "ensemblId": "ENSG00000175489", "biotype": "protein_coding", "start": 18390351, "end": 18397622, "strand": "-", "slug": "lrrc25" }, { "symbol": "SSBP4", "ensemblId": "ENSG00000130511", "biotype": "protein_coding", "start": 18418864, "end": 18434563, "strand": "+", "slug": "ssbp4" }, { "symbol": "ISYNA1", "ensemblId": "ENSG00000105655", "biotype": "protein_coding", "start": 18434388, "end": 18438309, "strand": "-", "slug": "isyna1" }, { "symbol": "ELL", "ensemblId": "ENSG00000105656", "biotype": "protein_coding", "start": 18442663, "end": 18522116, "strand": "-", "slug": "ell" }, { "symbol": "FKBP8", "ensemblId": "ENSG00000105701", "biotype": "protein_coding", "start": 18531751, "end": 18544264, "strand": "-", "slug": "fkbp8" }, { "symbol": "KXD1", "ensemblId": "ENSG00000105700", "biotype": "protein_coding", "start": 18557683, "end": 18569387, "strand": "+", "slug": "kxd1" }, { "symbol": "UBA52", "ensemblId": "ENSG00000221983", "biotype": "protein_coding", "start": 18571722, "end": 18577550, "strand": "+", "slug": "uba52" }, { "symbol": "REX1BD", "ensemblId": "ENSG00000006015", "biotype": "protein_coding", "start": 18588685, "end": 18592342, "strand": "+", "slug": "rex1bd" }, { "symbol": "TMEM59L", "ensemblId": "ENSG00000105696", "biotype": "protein_coding", "start": 18607335, "end": 18621050, "strand": "+", "slug": "tmem59l" }, { "symbol": "KLHL26", "ensemblId": "ENSG00000167487", "biotype": "protein_coding", "start": 18637018, "end": 18671721, "strand": "+", "slug": "klhl26" }, { "symbol": "CRTC1", "ensemblId": "ENSG00000105662", "biotype": "protein_coding", "start": 18683575, "end": 18782333, "strand": "+", "slug": "crtc1" }, { "symbol": "COMP", "ensemblId": "ENSG00000105664", "biotype": "protein_coding", "start": 18782773, "end": 18791312, "strand": "-", "slug": "comp" }, { "symbol": "UPF1", "ensemblId": "ENSG00000005007", "biotype": "protein_coding", "start": 18831905, "end": 18868232, "strand": "+", "slug": "upf1" }, { "symbol": "GDF1", "ensemblId": "ENSG00000130283", "biotype": "protein_coding", "start": 18868545, "end": 18896158, "strand": "-", "slug": "gdf1" }, { "symbol": "CERS1", "ensemblId": "ENSG00000223802", "biotype": "protein_coding", "start": 18868545, "end": 18896727, "strand": "-", "slug": "cers1" }, { "symbol": "COPE", "ensemblId": "ENSG00000105669", "biotype": "protein_coding", "start": 18899511, "end": 18919407, "strand": "-", "slug": "cope" }, { "symbol": "", "ensemblId": "ENSG00000268193", "biotype": "protein_coding", "start": 18907013, "end": 18934397, "strand": "-" }, { "symbol": "DDX49", "ensemblId": "ENSG00000105671", "biotype": "protein_coding", "start": 18919667, "end": 18929189, "strand": "+", "slug": "ddx49" }, { "symbol": "HOMER3", "ensemblId": "ENSG00000051128", "biotype": "protein_coding", "start": 18929201, "end": 18941728, "strand": "-", "slug": "homer3" }, { "symbol": "SUGP2", "ensemblId": "ENSG00000064607", "biotype": "protein_coding", "start": 18990887, "end": 19061647, "strand": "-", "slug": "sugp2" }, { "symbol": "ARMC6", "ensemblId": "ENSG00000105676", "biotype": "protein_coding", "start": 19033575, "end": 19060311, "strand": "+", "slug": "armc6" }, { "symbol": "SLC25A42", "ensemblId": "ENSG00000181035", "biotype": "protein_coding", "start": 19061697, "end": 19113030, "strand": "+", "slug": "slc25a42" } ], "truncated": false }, "reports": [ { "slug": "hereditary-sensory-and-autonomic-neuropathies", "name": "Arvelige sensoriske og autonome neuropatier (inkl. familiær dysautonomi)", "diseases": [ { "mondoId": "MONDO:0015364", "name": "Arvelig sensorisk og autonom neuropati", "genes": 21, "inheritance": null, "description": "En gruppe neuropatier, herunder familiær dysautonomi (ELP1), HSAN1 (SPTLC1/SPTLC2), HSAN2 (WNK1, RETREG1) og medfødt smerteufølsomhed (NTRK1, SCN9A, PRDM12). De fleste er recessive, mens HSAN1 er dominant.", "management": "Beskyttelse mod ubemærkede skader, forbrændinger og infektioner, håndtering af autonome symptomer og bærertest for slægtninge (familiær dysautonomi indgår i screening for bærere blandt askenasiske jøder).", "evidence": { "gencc": [ "Ambry Genetics", "G2P", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/da/conditions/hereditary-sensory-and-autonomic-neuropathies" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "gastroesophageal-reflux", "name": "Acid reflux", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gastroesophageal-reflux" }, { "slug": "facial-palsy", "name": "Bell's palsy", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/facial-palsy" }, { "slug": "dyspnea", "name": "Breathing difficulty", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/dyspnea" }, { "slug": "bronchitis", "name": "Bronchitis", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bronchitis" }, { "slug": "chest-pain", "name": "Chest pain", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/chest-pain" }, { "slug": "talipes-equinovarus", "name": "Club feet", "systems": [ "abnormality-of-limbs" ], "url": "https://dantelabs.com/traits/talipes-equinovarus" }, { "slug": "cognitive-impairment", "name": "Cognitive impairment", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cognitive-impairment" }, { "slug": "keratitis", "name": "Corneal inflammation", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/keratitis" }, { "slug": "cough", "name": "Cough", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cough" }, { "slug": "trismus", "name": "Decrease in jaw mobility", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/trismus" }, { "slug": "hypohidrosis", "name": "Decreased ability to sweat", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypohidrosis" }, { "slug": "decreased-circulating-prealbumin-concentration", "name": "Decreased circulating prealbumin concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/decreased-circulating-prealbumin-concentration" }, { "slug": "carious-teeth", "name": "Dental cavities", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/carious-teeth" }, { "slug": "depressed-nasal-bridge", "name": "Depressed nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/depressed-nasal-bridge" }, { "slug": "pes-planus", "name": "Dropped arches", "systems": [ "abnormality-of-limbs" ], "url": "https://dantelabs.com/traits/pes-planus" }, { "slug": "elbow-flexion-contracture", "name": "Elbow flexion contracture", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/elbow-flexion-contracture" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "recurrent-fever", "name": "Episodic fever", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/recurrent-fever" }, { "slug": "hyperhidrosis", "name": "Excessive sweating", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hyperhidrosis" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "feeding-difficulties-in-infancy", "name": "Feeding difficulties in infancy", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy" }, { "slug": "flexion-contracture", "name": "Flexed joint that cannot be straightened", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/flexion-contracture" }, { "slug": "full-cheeks", "name": "Full cheeks", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/full-cheeks" }, { "slug": "high-palate", "name": "High palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/high-palate" }, { "slug": "kyphosis", "name": "Hunched back", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/kyphosis" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "adducted-thumb", "name": "Inward turned thumb", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/adducted-thumb" }, { "slug": "kyphoscoliosis", "name": "Kyphoscoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/kyphoscoliosis" }, { "slug": "large-face", "name": "Large face", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/large-face" }, { "slug": "limitation-of-joint-mobility", "name": "Limitation of joint mobility", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/limitation-of-joint-mobility" }, { "slug": "limited-elbow-extension", "name": "Limited elbow extension", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/limited-elbow-extension" }, { "slug": "micrognathia", "name": "Little lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/micrognathia" }, { "slug": "long-philtrum", "name": "Long philtrum", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/long-philtrum" }, { "slug": "low-set-ears", "name": "Low-set ears", "systems": [ "abnormality-of-the-ear" ], "url": "https://dantelabs.com/traits/low-set-ears" }, { "slug": "malignant-hyperthermia", "name": "Malignant hyperthermia", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/malignant-hyperthermia" }, { "slug": "malnutrition", "name": "Malnutrition", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/malnutrition" }, { "slug": "narrow-mouth", "name": "Narrow mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/narrow-mouth" }, { "slug": "hypernasal-speech", "name": "Nasal speech", "systems": [ "abnormality-of-the-voice" ], "url": "https://dantelabs.com/traits/hypernasal-speech" }, { "slug": "anteverted-nares", "name": "Nasal tip, upturned", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/anteverted-nares" }, { "slug": "opisthotonus", "name": "Opisthotonus", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/opisthotonus" }, { "slug": "camptodactyly-of-finger", "name": "Permanent flexion of the finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/camptodactyly-of-finger" }, { "slug": "camptodactyly", "name": "Permanent flexion of the finger or toe", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/camptodactyly" }, { "slug": "dysphagia", "name": "Poor swallowing", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/dysphagia" }, { "slug": "radial-deviation-of-finger", "name": "Radial deviation of finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/radial-deviation-of-finger" }, { "slug": "retrognathia", "name": "Receding chin", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/retrognathia" }, { "slug": "recurrent-aspiration-pneumonia", "name": "Recurrent aspiration pneumonia", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/recurrent-aspiration-pneumonia" }, { "slug": "respiratory-insufficiency", "name": "Respiratory function loss", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/respiratory-insufficiency" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "short-neck", "name": "Short neck", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/short-neck" }, { "slug": "short-palm", "name": "Short palm", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/short-palm" }, { "slug": "hypertonia", "name": "Spasticity and rigidity of muscles", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypertonia" }, { "slug": "sudden-cardiac-death", "name": "Sudden cardiac death", "systems": [ "abnormality-of-the-cardiovascular-system", "constitutional-symptom" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/sudden-cardiac-death" }, { "slug": "tapered-finger", "name": "Tapered finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/tapered-finger" }, { "slug": "weight-loss", "name": "Weight loss", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/weight-loss" }, { "slug": "wheezing", "name": "Wheezing", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/wheezing" }, { "slug": "wide-nose", "name": "Wide nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/wide-nose" } ], "related": [ { "slug": "aifm1", "symbol": "AIFM1", "name": "apoptosis inducing factor mitochondria associated 1", "shared": 1, "url": "https://dantelabs.com/da/genes/aifm1" }, { "slug": "atl1", "symbol": "ATL1", "name": "atlastin GTPase 1", "shared": 1, "url": "https://dantelabs.com/da/genes/atl1" }, { "slug": "atl3", "symbol": "ATL3", "name": "atlastin GTPase 3", "shared": 1, "url": "https://dantelabs.com/da/genes/atl3" }, { "slug": "clcf1", "symbol": "CLCF1", "name": "cardiotrophin like cytokine factor 1", "shared": 1, "url": "https://dantelabs.com/da/genes/clcf1" }, { "slug": "dnmt1", "symbol": "DNMT1", "name": "DNA methyltransferase 1", "shared": 1, "url": "https://dantelabs.com/da/genes/dnmt1" }, { "slug": "dst", "symbol": "DST", "name": "dystonin", "shared": 1, "url": "https://dantelabs.com/da/genes/dst" }, { "slug": "elp1", "symbol": "ELP1", "name": "elongator acetyltransferase complex subunit 1", "shared": 1, "url": "https://dantelabs.com/da/genes/elp1" }, { "slug": "kif1a", "symbol": "KIF1A", "name": "kinesin family member 1A", "shared": 1, "url": "https://dantelabs.com/da/genes/kif1a" }, { "slug": "klhl7", "symbol": "KLHL7", "name": "kelch like family member 7", "shared": 1, "url": "https://dantelabs.com/da/genes/klhl7" }, { "slug": "ngf", "symbol": "NGF", "name": "nerve growth factor", "shared": 1, "url": "https://dantelabs.com/da/genes/ngf" }, { "slug": "ntrk1", "symbol": "NTRK1", "name": "neurotrophic receptor tyrosine kinase 1", "shared": 1, "url": "https://dantelabs.com/da/genes/ntrk1" }, { "slug": "prdm12", "symbol": "PRDM12", "name": "PR/SET domain 12", "shared": 1, "url": "https://dantelabs.com/da/genes/prdm12" } ], "sources": { "bundleId": "2026.10.16-c6eea6bf", "panel": "2026-10-16", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }