{ "url": "https://dantelabs.com/tr/genes/dhtkd1", "gene": { "slug": "dhtkd1", "symbol": "DHTKD1", "name": "dehydrogenase E1 and transketolase domain containing 1", "hgnc": "HGNC:23537", "summary": null, "location": "10p14", "locusType": "gene with protein product", "aliases": [ "KIAA1630", "MGC3090", "DKFZP762M115", "CMT2Q", "OADC-E1", "OADH-E1", "E1a" ], "previousSymbols": [], "ensemblId": "ENSG00000181192", "entrezId": 55526, "omim": [ "614984" ], "uniprot": [ "Q96HY7" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "10", "start": 12068954, "end": 12123221, "strand": "+", "ensemblTranscript": "ENST00000263035.9", "refseqTranscript": "NM_018706.7", "ensemblProtein": "ENSP00000263035.4", "refseqProtein": "NP_061176.4", "exons": [ { "start": 12068954, "end": 12069187 }, { "start": 12081472, "end": 12081627 }, { "start": 12084540, "end": 12084751 }, { "start": 12087535, "end": 12087729 }, { "start": 12088986, "end": 12089255 }, { "start": 12091513, "end": 12091684 }, { 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"symbol": "PROSER2", "ensemblId": "ENSG00000148426", "biotype": "protein_coding", "start": 11823339, "end": 11872277, "strand": "+", "slug": "proser2" }, { "symbol": "UPF2", "ensemblId": "ENSG00000151461", "biotype": "protein_coding", "start": 11920020, "end": 12043170, "strand": "-", "slug": "upf2" }, { "symbol": "SEC61A2", "ensemblId": "ENSG00000065665", "biotype": "protein_coding", "start": 12129637, "end": 12169961, "strand": "+", "slug": "sec61a2" }, { "symbol": "NUDT5", "ensemblId": "ENSG00000165609", "biotype": "protein_coding", "start": 12164844, "end": 12196155, "strand": "-", "slug": "nudt5" }, { "symbol": "CDC123", "ensemblId": "ENSG00000151465", "biotype": "protein_coding", "start": 12195910, "end": 12250595, "strand": "+", "slug": "cdc123" }, { "symbol": "CAMK1D", "ensemblId": "ENSG00000183049", "biotype": "protein_coding", "start": 12349513, "end": 12835545, "strand": "+", "slug": "camk1d" } ], "truncated": false }, "reports": [ { "slug": "charcot-marie-tooth-disease-type-1", "name": "Charcot-Marie-Tooth Hastalığı", "diseases": [ { "mondoId": "MONDO:0015626", "name": "Charcot-Marie-Tooth Hastalığı", "genes": 62, "inheritance": null, "description": "Başlıca ayaklarda ve ellerde görülen, distal kaslarda ilerleyici güçsüzlüğe ve erimeye ve duyu kaybına neden olan, kalıtsal periferik nöropatiler grubudur.", "management": "Genetik danışmanlık, alt tipe özgü izlem, fizik tedavi, ortez kullanımı, nörotoksik ilaçlardan kaçınma, gene özgü klinik araştırmalar, ilişkili bulguların takibi", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/tr/conditions/charcot-marie-tooth-disease-type-1" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "2-hydroxyadipic-aciduria", "name": "2-hydroxyadipic aciduria", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/2-hydroxyadipic-aciduria" }, { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/gait-disturbance" }, { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "alpha-aminoadipic-aciduria", "name": "Alpha-aminoadipic aciduria", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/alpha-aminoadipic-aciduria" }, { "slug": "attention-deficit-hyperactivity-disorder", "name": "Attention deficit", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/attention-deficit-hyperactivity-disorder" }, { "slug": "autism", "name": "Autism", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/autism" }, { "slug": "hyporeflexia", "name": "Decreased reflex response", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyporeflexia" }, { "slug": "delayed-speech-and-language-development", "name": "Delayed speech and language development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/delayed-speech-and-language-development" }, { "slug": "distal-lower-limb-muscle-weakness", "name": "Distal lower limb muscle weakness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/distal-lower-limb-muscle-weakness" }, { "slug": "elevated-circulating-2-aminoadipic-acid-concentration", "name": "Elevated circulating 2-aminoadipic acid concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/elevated-circulating-2-aminoadipic-acid-concentration" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/seizure" }, { "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": "pes-cavus", "name": "High-arched foot", "systems": [ "abnormality-of-limbs" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/pes-cavus" }, { "slug": "impaired-distal-vibration-sensation", "name": "Impaired distal vibration sensation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/impaired-distal-vibration-sensation" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "mild-global-developmental-delay", "name": "Mild global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/mild-global-developmental-delay" }, { "slug": "skeletal-muscle-atrophy", "name": "Muscle degeneration", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy" }, { "slug": "somatic-sensory-dysfunction", "name": "Somatic sensory dysfunction", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/somatic-sensory-dysfunction" } ], "related": [ { "slug": "aars1", "symbol": "AARS1", "name": "alanyl-tRNA synthetase 1", "shared": 1, "url": "https://dantelabs.com/tr/genes/aars1" }, { "slug": "aifm1", "symbol": "AIFM1", "name": "apoptosis inducing factor mitochondria associated 1", "shared": 1, "url": "https://dantelabs.com/tr/genes/aifm1" }, { "slug": "atp1a1", "symbol": "ATP1A1", "name": "ATPase Na+/K+ transporting subunit alpha 1", "shared": 1, "url": "https://dantelabs.com/tr/genes/atp1a1" }, { "slug": "cadm3", "symbol": "CADM3", "name": "cell adhesion molecule 3", "shared": 1, "url": "https://dantelabs.com/tr/genes/cadm3" }, { "slug": "cox6a1", "symbol": "COX6A1", "name": "cytochrome c oxidase subunit 6A1", "shared": 1, "url": "https://dantelabs.com/tr/genes/cox6a1" }, { "slug": "dhx9", "symbol": "DHX9", "name": "DExH-box helicase 9", "shared": 1, "url": "https://dantelabs.com/tr/genes/dhx9" }, { "slug": "dnm2", "symbol": "DNM2", "name": "dynamin 2", "shared": 1, "url": "https://dantelabs.com/tr/genes/dnm2" }, { "slug": "drp2", "symbol": "DRP2", "name": "dystrophin related protein 2", "shared": 1, "url": "https://dantelabs.com/tr/genes/drp2" }, { "slug": "dync1h1", "symbol": "DYNC1H1", "name": "dynein cytoplasmic 1 heavy chain 1", "shared": 1, "url": "https://dantelabs.com/tr/genes/dync1h1" }, { "slug": "egr2", "symbol": "EGR2", "name": "early growth response 2", "shared": 1, "url": "https://dantelabs.com/tr/genes/egr2" }, { "slug": "fbln5", "symbol": "FBLN5", "name": "fibulin 5", "shared": 1, "url": "https://dantelabs.com/tr/genes/fbln5" }, { "slug": "fgd4", "symbol": "FGD4", "name": "FYVE, RhoGEF and PH domain containing 4", "shared": 1, "url": "https://dantelabs.com/tr/genes/fgd4" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }