{ "url": "https://dantelabs.com/sv/genes/cep41", "gene": { "slug": "cep41", "symbol": "CEP41", "name": "centrosomal protein 41", "hgnc": "HGNC:12370", "summary": null, "location": "7q32.2", "locusType": "gene with protein product", "aliases": [ "DKFZp762H1311", "FLJ22445", "JBTS15" ], "previousSymbols": [ "TSGA14" ], "ensemblId": "ENSG00000106477", "entrezId": 95681, "omim": [ "610523" ], "uniprot": [ "Q9BYV8" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "7", "start": 130393771, "end": 130441016, "strand": "-", "ensemblTranscript": "ENST00000223208.10", "refseqTranscript": "NM_018718.3", "ensemblProtein": "ENSP00000223208.4", "refseqProtein": "NP_061188.1", "exons": [ { "start": 130393771, "end": 130399039 }, { "start": 130400039, "end": 130400254 }, { "start": 130400707, "end": 130400821 }, { "start": 130401881, "end": 130401948 }, { "start": 130402648, "end": 130402799 }, { "start": 130404564, "end": 130404708 }, { "start": 130411122, "end": 130411191 }, { "start": 130412179, "end": 130412240 }, { "start": 130416919, "end": 130416966 }, { "start": 130427955, "end": 130428018 }, { "start": 130440934, "end": 130441016 } ], "cds": { "start": 130398891, "end": 130440966 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "7", "start": 130033612, "end": 130082274, "strand": "-" }, "neighbourhood": { "release": "116", "start": 129917394, "end": 130917393, "genes": [ { "symbol": "UBE2H", "ensemblId": "ENSG00000186591", "biotype": "protein_coding", "start": 129830732, "end": 129952988, "strand": "-", "slug": "ube2h" }, { "symbol": "ZC3HC1", "ensemblId": "ENSG00000091732", "biotype": "protein_coding", "start": 130018286, "end": 130051401, "strand": "-", "slug": "zc3hc1" }, { "symbol": "KLHDC10", "ensemblId": "ENSG00000128607", "biotype": "protein_coding", "start": 130070534, "end": 130135720, "strand": "+", "slug": "klhdc10" }, { "symbol": "TMEM209", "ensemblId": "ENSG00000146842", "biotype": "protein_coding", "start": 130164713, "end": 130207770, "strand": "-", "slug": "tmem209" }, { "symbol": "SSMEM1", "ensemblId": "ENSG00000165120", "biotype": "protein_coding", "start": 130206344, "end": 130219343, "strand": "+", "slug": "ssmem1" }, { "symbol": "CPA2", "ensemblId": "ENSG00000158516", "biotype": "protein_coding", "start": 130266821, "end": 130289798, "strand": "+", "slug": "cpa2" }, { "symbol": "CPA4", "ensemblId": "ENSG00000128510", "biotype": "protein_coding", "start": 130293118, "end": 130324180, "strand": "+", "slug": "cpa4" }, { "symbol": "CPA5", "ensemblId": "ENSG00000158525", "biotype": "protein_coding", "start": 130344816, "end": 130368730, "strand": "+", "slug": "cpa5" }, { "symbol": "CPA1", "ensemblId": "ENSG00000091704", "biotype": "protein_coding", "start": 130380339, "end": 130388114, "strand": "+", "slug": "cpa1" }, { "symbol": "MEST", "ensemblId": "ENSG00000106484", "biotype": "protein_coding", "start": 130486171, "end": 130522765, "strand": "+", "slug": "mest" }, { "symbol": "COPG2", "ensemblId": "ENSG00000158623", "biotype": "protein_coding", "start": 130505553, "end": 130668755, "strand": "-", "slug": "copg2" }, { "symbol": "TSGA13", "ensemblId": "ENSG00000213265", "biotype": "protein_coding", "start": 130668643, "end": 130687432, "strand": "-", "slug": "tsga13" }, { "symbol": "KLF14", "ensemblId": "ENSG00000266265", "biotype": "protein_coding", "start": 130730697, "end": 130734207, "strand": "-", "slug": "klf14" } ], "truncated": false }, "reports": [ { "slug": "joubert-syndrome-and-related-disorders", "name": "Joubert-syndrom och relaterade sjukdomar", "diseases": [ { "mondoId": "MONDO:0015369", "name": "Joubert-syndrom och relaterade sjukdomar", "genes": 12, "inheritance": "autosomal-recessive", "description": "Joubert-syndrom (JS) och relaterade sjukdomar (JSRD) är en grupp utvecklingsförseningar/syndrom med flera medfödda missbildningar, där det obligatoriska kännetecknet är \"molar tooth sign\" (MTS), en komplex missbildning i mellanhjärnan och bakhjärnan som går att känna igen vid hjärnavbildning. MTS kännetecknas av hypodysplasi av cerebellum vermis, förtjockning och felaktig orientering av de övre cerebellära pedunklarna samt en onormalt djup fossa interpeduncularis.", "management": null, "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false }, { "mondoId": "MONDO:0018772", "name": "Joubertsyndrom", "genes": 37, "inheritance": null, "description": "En ciliopati som kännetecknas av en missbildning i lillhjärnan och hjärnstammen (tecknet \"molar tooth\"), med nedsatt muskelspänning, försenad utveckling och onormala ögonrörelser, ibland med påverkan på njurar, lever eller ögon.", "management": null, "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/sv/conditions/joubert-syndrome-and-related-disorders" }, { "slug": "autosomal-recessive-cerebellar-ataxias", "name": "Autosomala recessiva cerebellära ataxier (inkl. CANVAS och AVED)", "diseases": [ { "mondoId": "MONDO:0015244", "name": "Autosomal recessiv cerebellär ataxi", "genes": 57, "inheritance": "autosomal-recessive", "description": "En grupp recessivt nedärvda ataxier som orsakas av biallleliska varianter i gener som RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 och SYNE1.", "management": "Ataxi med vitamin E-brist (TTPA) kan behandlas med vitamin E-tillskott. Andra former behandlas med sjukgymnastik och symtomlindrande vård, och släktingar kan erbjudas bärarprov.", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/sv/conditions/autosomal-recessive-cerebellar-ataxias" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-cardiovascular-system-morphology", "name": "Abnormal cardiovascular system morphology", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-cardiovascular-system-morphology" }, { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gait-disturbance" }, { "slug": "abnormal-pattern-of-respiration", "name": "Abnormal pattern of respiration", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-pattern-of-respiration" }, { "slug": "abnormal-vertebral-body-morphology", "name": "Abnormal vertebral body morphology", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-vertebral-body-morphology" }, { "slug": "abnormal-vertebral-morphology", "name": "Abnormal vertebral morphology", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-vertebral-morphology" }, { "slug": "abnormality-of-neuronal-migration", "name": "Abnormality of neuronal migration", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-neuronal-migration" }, { "slug": "abnormality-of-the-hypothalamus-pituitary-axis", "name": "Abnormality of the hypothalamus-pituitary axis", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-hypothalamus-pituitary-axis" }, { "slug": "agenesis-of-corpus-callosum", "name": "Agenesis of corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/agenesis-of-corpus-callosum" }, { "slug": "situs-inversus-totalis", "name": "All organs on wrong side of body", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/situs-inversus-totalis" }, { "slug": "ambiguous-genitalia", "name": "Ambiguous external genitalia", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ambiguous-genitalia" }, { "slug": "aplasia-hypoplasia-of-the-corpus-callosum", "name": "Aplasia/Hypoplasia of the corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-corpus-callosum" }, { "slug": "apnea", "name": "Apnea", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/apnea" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "retinal-dystrophy", "name": "Breakdown of light-sensitive cells in back of eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/retinal-dystrophy" }, { "slug": "iris-coloboma", "name": "Cat eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/iris-coloboma" }, { "slug": "cerebellar-vermis-hypoplasia", "name": "Cerebellar vermis hypoplasia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/cerebellar-vermis-hypoplasia" }, { "slug": "orofacial-cleft", "name": "Cleft of the mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/orofacial-cleft" }, { "slug": "cleft-palate", "name": "Cleft palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cleft-palate" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "biparietal-narrowing", "name": "Decreased width of the skull", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/biparietal-narrowing" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "foot-polydactyly", "name": "Duplication of bones of the toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/foot-polydactyly" }, { "slug": "posteriorly-rotated-ears", "name": "Ears rotated toward back of head", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/posteriorly-rotated-ears" }, { "slug": "encephalocele", "name": "Encephalocele", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/encephalocele" }, { "slug": "aganglionic-megacolon", "name": "Enlarged colon lacking nerve cells", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aganglionic-megacolon" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "episodic-tachypnea", "name": "Episodic tachypnea", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/episodic-tachypnea" }, { "slug": "exencephaly", "name": "Exencephaly", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/exencephaly" }, { "slug": "hand-polydactyly", "name": "Extra finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hand-polydactyly" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "feeding-difficulties-in-infancy", "name": "Feeding difficulties in infancy", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/generalized-hypotonia" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "dextrocardia", "name": "Heart tip and four chambers point towards right side of body", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dextrocardia" }, { "slug": "highly-arched-eyebrow", "name": "Highly arched eyebrow", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/highly-arched-eyebrow" }, { "slug": "retinal-coloboma", "name": "Hole in the back of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/retinal-coloboma" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "long-face", "name": "Long face", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/long-face" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "low-set-ears", "name": "Low-set ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/low-set-ears" }, { "slug": "molar-tooth-sign-on-mri", "name": "Molar tooth sign on MRI", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/molar-tooth-sign-on-mri" }, { "slug": "polymicrogyria", "name": "More grooves in brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/polymicrogyria" }, { "slug": "anteverted-nares", "name": "Nasal tip, upturned", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anteverted-nares" }, { "slug": "oculomotor-apraxia", "name": "Oculomotor apraxia", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/oculomotor-apraxia" }, { "slug": "preaxial-polydactyly", "name": "Preaxial polydactyly", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/preaxial-polydactyly" }, { "slug": "prominent-nasal-bridge", "name": "Prominent nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/prominent-nasal-bridge" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "micropenis", "name": "Short penis", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/micropenis" }, { "slug": "hydrocephalus", "name": "Too much cerebrospinal fluid in the brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hydrocephalus" }, { "slug": "tremor", "name": "Tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tremor" }, { "slug": "visual-loss", "name": "Visual loss", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/visual-loss" } ], "related": [ { "slug": "ahi1", "symbol": "AHI1", "name": "Abelson helper integration site 1", "shared": 3, "url": "https://dantelabs.com/sv/genes/ahi1" }, { "slug": "cc2d2a", "symbol": "CC2D2A", "name": "coiled-coil and C2 domain containing 2A", "shared": 3, "url": "https://dantelabs.com/sv/genes/cc2d2a" }, { "slug": "cep290", "symbol": "CEP290", "name": "centrosomal protein 290", "shared": 3, "url": "https://dantelabs.com/sv/genes/cep290" }, { "slug": "cspp1", "symbol": "CSPP1", "name": "centrosome and spindle pole associated protein 1", "shared": 3, "url": "https://dantelabs.com/sv/genes/cspp1" }, { "slug": "kiaa0586", "symbol": "KIAA0586", "name": "KIAA0586", "shared": 3, "url": "https://dantelabs.com/sv/genes/kiaa0586" }, { "slug": "mks1", "symbol": "MKS1", "name": "MKS transition zone complex subunit 1", "shared": 3, "url": "https://dantelabs.com/sv/genes/mks1" }, { "slug": "tmem138", "symbol": "TMEM138", "name": "transmembrane protein 138", "shared": 3, "url": "https://dantelabs.com/sv/genes/tmem138" }, { "slug": "tmem216", "symbol": "TMEM216", "name": "transmembrane protein 216", "shared": 3, "url": "https://dantelabs.com/sv/genes/tmem216" }, { "slug": "tmem231", "symbol": "TMEM231", "name": "transmembrane protein 231", "shared": 3, "url": "https://dantelabs.com/sv/genes/tmem231" }, { "slug": "tmem237", "symbol": "TMEM237", "name": "transmembrane protein 237", "shared": 3, "url": "https://dantelabs.com/sv/genes/tmem237" }, { "slug": "tmem67", "symbol": "TMEM67", "name": "transmembrane protein 67", "shared": 3, "url": "https://dantelabs.com/sv/genes/tmem67" }, { "slug": "ano10", "symbol": "ANO10", "name": "anoctamin 10", "shared": 1, "url": "https://dantelabs.com/sv/genes/ano10" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }