{ "url": "https://dantelabs.com/tr/genes/coq6", "gene": { "slug": "coq6", "symbol": "COQ6", "name": "coenzyme Q6, monooxygenase", "hgnc": "HGNC:20233", "summary": null, "location": "14q24.3", "locusType": "gene with protein product", "aliases": [ "CGI-10" ], "previousSymbols": [], "ensemblId": "ENSG00000119723", "entrezId": 51004, "omim": [ "614647" ], "uniprot": [ "Q9Y2Z9" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "14", "start": 73950302, "end": 73963670, "strand": "+", "ensemblTranscript": "ENST00000334571.7", "refseqTranscript": "NM_182476.3", "ensemblProtein": "ENSP00000333946.2", "refseqProtein": "NP_872282.1", "exons": [ { "start": 73950302, "end": 73950495 }, { "start": 73953435, "end": 73953569 }, { "start": 73955451, "end": 73955509 }, { "start": 73955805, "end": 73955928 }, { "start": 73958147, "end": 73958277 }, { "start": 73958971, "end": 73959078 }, { "start": 73959162, "end": 73959224 }, { "start": 73959415, "end": 73959522 }, { "start": 73961173, 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"start": 73851792, "end": 73885726, "strand": "+", "slug": "ptgr2" }, { "symbol": "", "ensemblId": "ENSG00000258653", "biotype": "protein_coding", "start": 73851971, "end": 73932278, "strand": "+" }, { "symbol": "ZNF410", "ensemblId": "ENSG00000119725", "biotype": "protein_coding", "start": 73886201, "end": 73932521, "strand": "+", "slug": "znf410" }, { "symbol": "FAM161B", "ensemblId": "ENSG00000156050", "biotype": "protein_coding", "start": 73931501, "end": 73950414, "strand": "-", "slug": "fam161b" }, { "symbol": "ENTPD5", "ensemblId": "ENSG00000187097", "biotype": "protein_coding", "start": 73956688, "end": 74019399, "strand": "-", "slug": "entpd5" }, { "symbol": "BBOF1", "ensemblId": "ENSG00000119636", "biotype": "protein_coding", "start": 74019341, "end": 74082863, "strand": "+", "slug": "bbof1" }, { "symbol": "ALDH6A1", "ensemblId": "ENSG00000119711", "biotype": "protein_coding", "start": 74055997, "end": 74084492, "strand": "-", "slug": "aldh6a1" }, { "symbol": "LIN52", "ensemblId": "ENSG00000205659", "biotype": "protein_coding", "start": 74084943, "end": 74201493, "strand": "+", "slug": "lin52" }, { "symbol": "VSX2", "ensemblId": "ENSG00000119614", "biotype": "protein_coding", "start": 74239449, "end": 74262738, "strand": "+", "slug": "vsx2" }, { "symbol": "ABCD4", "ensemblId": "ENSG00000119688", "biotype": "protein_coding", "start": 74285269, "end": 74303068, "strand": "-", "slug": "abcd4" }, { "symbol": "VRTN", "ensemblId": "ENSG00000133980", "biotype": "protein_coding", "start": 74303069, "end": 74360011, "strand": "+", "slug": "vrtn" }, { "symbol": "SYNDIG1L", "ensemblId": "ENSG00000183379", "biotype": "protein_coding", "start": 74405894, "end": 74426325, "strand": "-", "slug": "syndig1l" }, { "symbol": "NPC2", "ensemblId": "ENSG00000119655", "biotype": "protein_coding", "start": 74427119, "end": 74494177, "strand": "-", "slug": "npc2" } ], "truncated": false }, "reports": [ { "slug": "nephrotic-syndrome", "name": "Nefrotik Sendrom", "diseases": [ { "mondoId": "MONDO:0002331", "name": "Nefroz", "genes": 29, "inheritance": null, "description": "İltihabi veya neoplastik bileşen içermeyen, BÖBREĞİN patolojik süreçleridir. Nefroz birincil bir bozukluk olabileceği gibi başka hastalıkların ikincil bir komplikasyonu da olabilir. PROTEİNÜRİ ve HİPOALBÜMİNEMİ varlığına işaret eden NEFROTİK SENDROM ile karakterizedir ve eşlik eden ÖDEM görülür.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/tr/conditions/nephrotic-syndrome" }, { "slug": "primary-mitochondrial-disease", "name": "Primer Mitokondriyal Hastalık", "diseases": [ { "mondoId": "MONDO:0018151", "name": "Koenzim Q10 Eksikliği", "genes": 8, "inheritance": "autosomal-recessive", "description": "Koenzim Q10 üretimi için gerekli olan COQ2, COQ8A ve PDSS2 gibi genlerdeki varyantlardan kaynaklanır. Böbrek hastalığına, denge sorunlarına, kas güçsüzlüğüne ya da beyin hastalığına yol açabilir.", "management": "Bu bilgi eyleme dönüştürülebilir niteliktedir: birincil koenzim Q10 eksikliği, özellikle erken başlandığında yüksek doz koenzim Q10 takviyelerine yanıt verebilir.", "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/tr/conditions/primary-mitochondrial-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "neoplasm", "name": "Abnormal tissue mass", "systems": [], "frequency": "occasional", "url": "https://dantelabs.com/traits/neoplasm" }, { "slug": "bilateral-vestibular-schwannoma", "name": "Bilateral vestibular schwannoma", "systems": [ "abnormality-of-the-ear", "abnormality-of-the-nervous-system", "neoplasm" ], "url": "https://dantelabs.com/traits/bilateral-vestibular-schwannoma" }, { "slug": "cataract", "name": "Clouding of the lens of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cataract" }, { "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": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "lipoma", "name": "Fatty lump", "systems": [ "abnormality-of-the-musculoskeletal-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lipoma" }, { "slug": "focal-segmental-glomerulosclerosis", "name": "Focal segmental glomerulosclerosis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/focal-segmental-glomerulosclerosis" }, { "slug": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hearing-impairment" }, { "slug": "proteinuria", "name": "High urine protein levels", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/proteinuria" }, { "slug": "kidney-stone", "name": "Kidney stone", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/kidney-stone" }, { "slug": "lumbosacral-hemangioma", "name": "Lumbosacral hemangioma", "systems": [ "abnormality-of-the-cardiovascular-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lumbosacral-hemangioma" }, { "slug": "fasciculations", "name": "Muscle twitch", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/fasciculations" }, { "slug": "muscle-weakness", "name": "Muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/muscle-weakness" }, { "slug": "neoplasm-of-the-anterior-pituitary", "name": "Neoplasm of the anterior pituitary", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system", "neoplasm" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/neoplasm-of-the-anterior-pituitary" }, { "slug": "meningioma", "name": "Noncancerous growth of membranes covering brain", "systems": [ "abnormality-of-the-nervous-system", "neoplasm" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/meningioma" }, { "slug": "hypoesthesia", "name": "Numbness", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hypoesthesia" }, { "slug": "pain", "name": "Pain", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pain" }, { "slug": "peripheral-schwannoma", "name": "Peripheral schwannoma", "systems": [ "abnormality-of-the-integument", "abnormality-of-the-nervous-system", "neoplasm" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/peripheral-schwannoma" }, { "slug": "paresthesia", "name": "Pins and needles feeling", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/paresthesia" }, { "slug": "tinnitus", "name": "Ringing in ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tinnitus" }, { "slug": "schwannoma", "name": "Schwannoma", "systems": [ "abnormality-of-the-nervous-system", "neoplasm" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/schwannoma" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "spinal-cord-tumor", "name": "Spinal cord tumor", "systems": [ "abnormality-of-the-nervous-system", "neoplasm" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/spinal-cord-tumor" }, { "slug": "stage-5-chronic-kidney-disease", "name": "Stage 5 chronic kidney disease", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/stage-5-chronic-kidney-disease" }, { "slug": "steroid-resistant-nephrotic-syndrome", "name": "Steroid-resistant nephrotic syndrome", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/steroid-resistant-nephrotic-syndrome" }, { "slug": "uterine-leiomyoma", "name": "Uterine leiomyoma", "systems": [ "abnormality-of-the-genitourinary-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/uterine-leiomyoma" }, { "slug": "weak-voice", "name": "Weak voice", "systems": [ "abnormality-of-the-voice" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/weak-voice" } ], "related": [ { "slug": "actn4", "symbol": "ACTN4", "name": "actinin alpha 4", "shared": 1, "url": "https://dantelabs.com/tr/genes/actn4" }, { "slug": "arhgdia", "symbol": "ARHGDIA", "name": "Rho GDP dissociation inhibitor alpha", "shared": 1, "url": "https://dantelabs.com/tr/genes/arhgdia" }, { "slug": "coq2", "symbol": "COQ2", "name": "coenzyme Q2, polyprenyltransferase", "shared": 1, "url": "https://dantelabs.com/tr/genes/coq2" }, { "slug": "coq4", "symbol": "COQ4", "name": "coenzyme Q4", "shared": 1, "url": "https://dantelabs.com/tr/genes/coq4" }, { "slug": "coq7", "symbol": "COQ7", "name": "coenzyme Q7, hydroxylase", "shared": 1, "url": "https://dantelabs.com/tr/genes/coq7" }, { "slug": "coq8a", "symbol": "COQ8A", "name": "coenzyme Q8A", "shared": 1, "url": "https://dantelabs.com/tr/genes/coq8a" }, { "slug": "coq8b", "symbol": "COQ8B", "name": "coenzyme Q8B", "shared": 1, "url": "https://dantelabs.com/tr/genes/coq8b" }, { "slug": "coq9", "symbol": "COQ9", "name": "coenzyme Q9", "shared": 1, "url": "https://dantelabs.com/tr/genes/coq9" }, { "slug": "daam2", "symbol": "DAAM2", "name": "dishevelled associated activator of morphogenesis 2", "shared": 1, "url": "https://dantelabs.com/tr/genes/daam2" }, { "slug": "dgke", "symbol": "DGKE", "name": "diacylglycerol kinase epsilon", "shared": 1, "url": "https://dantelabs.com/tr/genes/dgke" }, { "slug": "dlc1", "symbol": "DLC1", "name": "DLC1 Rho GTPase activating protein", "shared": 1, "url": "https://dantelabs.com/tr/genes/dlc1" }, { "slug": "emp2", "symbol": "EMP2", "name": "epithelial membrane protein 2", "shared": 1, "url": "https://dantelabs.com/tr/genes/emp2" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }