{ "url": "https://dantelabs.com/nl/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-syndroom en verwante aandoeningen", "diseases": [ { "mondoId": "MONDO:0015369", "name": "Joubert-syndroom en verwante aandoeningen", "genes": 12, "inheritance": "autosomal-recessive", "description": "Het Joubert-syndroom (JS) en verwante aandoeningen (JSRD) vormen een groep ontwikkelingsvertragings-/meervoudige aangeboren afwijkingssyndromen waarbij het verplichte kenmerk het \"molaire-kies-teken'' (MTS) is, een complexe misvorming van het gebied tussen middenhersenen en achterhersenen die herkenbaar is op hersenbeeldvorming. Het MTS wordt gekenmerkt door hypodysplasie van de cerebellaire vermis, verdikking en verkeerde oriëntatie van de superieure cerebellaire pedunculi en een abnormaal diepe fossa interpeduncularis.", "management": null, "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false }, { "mondoId": "MONDO:0018772", "name": "Joubert-syndroom", "genes": 37, "inheritance": null, "description": "Een ciliopathie die wordt gekenmerkt door een afwijking van het kleine brein en de hersenstam (het molaire-tandteken), met verminderde spierspanning, ontwikkelingsachterstand en afwijkende oogbewegingen. Soms zijn ook de nieren, lever of ogen betrokken.", "management": null, "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/nl/conditions/joubert-syndrome-and-related-disorders" }, { "slug": "autosomal-recessive-cerebellar-ataxias", "name": "Autosomale recessieve cerebellaire ataxieën (waaronder CANVAS en AVED)", "diseases": [ { "mondoId": "MONDO:0015244", "name": "Autosomale recessieve cerebellaire ataxie", "genes": 57, "inheritance": "autosomal-recessive", "description": "Een groep recessief overgeërfde ataxieën, veroorzaakt door biallelische varianten in genen zoals RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 en SYNE1.", "management": "Ataxie met vitamine E-tekort (TTPA) kan worden behandeld met vitamine E-supplementen; andere vormen worden behandeld met fysiotherapie en symptoombestrijding, en aan familieleden kan een draagstertest worden aangeboden.", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/nl/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/nl/genes/ahi1" }, { "slug": "cc2d2a", "symbol": "CC2D2A", "name": "coiled-coil and C2 domain containing 2A", "shared": 3, "url": "https://dantelabs.com/nl/genes/cc2d2a" }, { "slug": "cep290", "symbol": "CEP290", "name": "centrosomal protein 290", "shared": 3, "url": "https://dantelabs.com/nl/genes/cep290" }, { "slug": "cspp1", "symbol": "CSPP1", "name": "centrosome and spindle pole associated protein 1", "shared": 3, "url": "https://dantelabs.com/nl/genes/cspp1" }, { "slug": "kiaa0586", "symbol": "KIAA0586", "name": "KIAA0586", "shared": 3, "url": "https://dantelabs.com/nl/genes/kiaa0586" }, { "slug": "mks1", "symbol": "MKS1", "name": "MKS transition zone complex subunit 1", "shared": 3, "url": "https://dantelabs.com/nl/genes/mks1" }, { "slug": "tmem138", "symbol": "TMEM138", "name": "transmembrane protein 138", "shared": 3, "url": "https://dantelabs.com/nl/genes/tmem138" }, { "slug": "tmem216", "symbol": "TMEM216", "name": "transmembrane protein 216", "shared": 3, "url": "https://dantelabs.com/nl/genes/tmem216" }, { "slug": "tmem231", "symbol": "TMEM231", "name": "transmembrane protein 231", "shared": 3, "url": "https://dantelabs.com/nl/genes/tmem231" }, { "slug": "tmem237", "symbol": "TMEM237", "name": "transmembrane protein 237", "shared": 3, "url": "https://dantelabs.com/nl/genes/tmem237" }, { "slug": "tmem67", "symbol": "TMEM67", "name": "transmembrane protein 67", "shared": 3, "url": "https://dantelabs.com/nl/genes/tmem67" }, { "slug": "ano10", "symbol": "ANO10", "name": "anoctamin 10", "shared": 1, "url": "https://dantelabs.com/nl/genes/ano10" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }