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"symbol": "GFER", "ensemblId": "ENSG00000127554", "biotype": "protein_coding", "start": 1983699, "end": 1987749, "strand": "+", "slug": "gfer" }, { "symbol": "SYNGR3", "ensemblId": "ENSG00000127561", "biotype": "protein_coding", "start": 1989637, "end": 1994275, "strand": "+", "slug": "syngr3" }, { "symbol": "ZNF598", "ensemblId": "ENSG00000167962", "biotype": "protein_coding", "start": 1997654, "end": 2009821, "strand": "-", "slug": "znf598" }, { "symbol": "NPW", "ensemblId": "ENSG00000183971", "biotype": "protein_coding", "start": 2009926, "end": 2020755, "strand": "+", "slug": "npw" }, { "symbol": "NHERF2", "ensemblId": "ENSG00000065054", "biotype": "protein_coding", "start": 2025356, "end": 2039026, "strand": "+", "slug": "nherf2" }, { "symbol": "NTHL1", "ensemblId": "ENSG00000065057", "biotype": "protein_coding", "start": 2039814, "end": 2047866, "strand": "-", "slug": "nthl1" }, { "symbol": "TSC2", "ensemblId": "ENSG00000103197", "biotype": "protein_coding", "start": 2047345, "end": 2089491, "strand": "+", "slug": "tsc2" }, { "symbol": "PKD1", "ensemblId": "ENSG00000008710", "biotype": "protein_coding", "start": 2088708, "end": 2135898, "strand": "-", "slug": "pkd1" }, { "symbol": "RAB26", "ensemblId": "ENSG00000167964", "biotype": "protein_coding", "start": 2140803, "end": 2154165, "strand": "+", "slug": "rab26" }, { "symbol": "TRAF7", "ensemblId": "ENSG00000131653", "biotype": "protein_coding", "start": 2155692, "end": 2178129, "strand": "+", "slug": "traf7" }, { "symbol": "CASKIN1", "ensemblId": "ENSG00000167971", "biotype": "protein_coding", "start": 2177180, "end": 2196788, "strand": "-", "slug": "caskin1" }, { "symbol": "MLST8", "ensemblId": "ENSG00000167965", "biotype": "protein_coding", "start": 2204248, "end": 2209453, "strand": "+", "slug": "mlst8" }, { "symbol": "BRICD5", "ensemblId": "ENSG00000182685", "biotype": "protein_coding", "start": 2209252, "end": 2210905, "strand": "-", "slug": "bricd5" }, { "symbol": "PGP", "ensemblId": "ENSG00000184207", "biotype": "protein_coding", "start": 2211593, "end": 2214846, "strand": "-", "slug": "pgp" }, { "symbol": "E4F1", "ensemblId": "ENSG00000167967", "biotype": "protein_coding", "start": 2223440, "end": 2235743, "strand": "+", "slug": "e4f1" }, { "symbol": "DNASE1L2", "ensemblId": "ENSG00000167968", "biotype": "protein_coding", "start": 2235816, "end": 2238711, "strand": "+", "slug": "dnase1l2" }, { "symbol": "ECI1", "ensemblId": "ENSG00000167969", "biotype": "protein_coding", "start": 2239376, "end": 2252300, "strand": "-", "slug": "eci1" }, { "symbol": "RNPS1", "ensemblId": "ENSG00000205937", "biotype": "protein_coding", "start": 2253116, "end": 2268413, "strand": "-", "slug": "rnps1" } ], "truncated": false }, "reports": [ { "slug": "primary-mitochondrial-disease", "name": "Primaire mitochondriële ziekte", "diseases": [ { "mondoId": "MONDO:0000732", "name": "Gecombineerde deficiëntie van oxidatieve fosforylering", "genes": 48, "inheritance": null, "description": "Aandoeningen, meestal veroorzaakt door nucleaire genen die betrokken zijn bij de productie van mitochondriale eiwitten. Ze verminderen meerdere ademhalingsketencomplexen tegelijk en veroorzaken vaak ernstige ziekte van meerdere organen in de kindertijd.", "management": "Weten kan een diagnostisch zoektraject beëindigen en helpt bij controle en ondersteunende zorg.", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/nl/conditions/primary-mitochondrial-disease" }, { "slug": "leigh-syndrome", "name": "Syndroom van Leigh", "diseases": [ { "mondoId": "MONDO:0009723", "name": "Syndroom van Leigh", "genes": 69, "inheritance": null, "description": "Een progressieve neurologische aandoening, gekenmerkt door specifieke neuropathologische kenmerken waarbij laesies in de hersenstam en de basale ganglia samen voorkomen.", "management": null, "evidence": { "gencc": [], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/nl/conditions/leigh-syndrome" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "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": "absent-speech", "name": "Absent speech development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/absent-speech" }, { "slug": "gastroesophageal-reflux", "name": "Acid reflux", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gastroesophageal-reflux" }, { "slug": "choreoathetosis", "name": "Choreoathetosis", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/choreoathetosis" }, { "slug": "coarse-facial-features", "name": "Coarse facial features", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/coarse-facial-features" }, { "slug": "constipation", "name": "Constipation", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/constipation" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "dystonia", "name": "Dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dystonia" }, { "slug": "elevated-brain-lactate-level-by-mrs", "name": "Elevated brain lactate level by MRS", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/elevated-brain-lactate-level-by-mrs" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "increased-circulating-lactate-concentration", "name": "Higher than normal levels of lactate in blood", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration" }, { "slug": "horseshoe-kidney", "name": "Horseshoe kidney", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/horseshoe-kidney" }, { "slug": "inability-to-walk", "name": "Inability to walk", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/inability-to-walk" }, { "slug": "increased-csf-lactate", "name": "Increased CSF lactate", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-csf-lactate" }, { "slug": "lactic-acidosis", "name": "Increased lactate in body", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/lactic-acidosis" }, { "slug": "hyperreflexia", "name": "Increased reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/hyperreflexia" }, { "slug": "spasticity", "name": "Involuntary muscle stiffness, contraction, or spasm", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/spasticity" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "joint-contracture", "name": "Joint contracture", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/joint-contracture" }, { "slug": "kyphoscoliosis", "name": "Kyphoscoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/kyphoscoliosis" }, { "slug": "developmental-regression", "name": "Loss of developmental milestones", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/developmental-regression" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "optic-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/optic-atrophy" }, { "slug": "exotropia", "name": "Outward facing eye ball", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/exotropia" }, { "slug": "sleep-apnea", "name": "Pauses in breathing while sleeping", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sleep-apnea" }, { "slug": "dysphagia", "name": "Poor swallowing", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysphagia" }, { "slug": "tremor", "name": "Tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/tremor" } ], "related": [ { "slug": "aifm1", "symbol": "AIFM1", "name": "apoptosis inducing factor mitochondria associated 1", "shared": 2, "url": "https://dantelabs.com/nl/genes/aifm1" }, { "slug": "ears2", "symbol": "EARS2", "name": "glutamyl-tRNA synthetase 2, mitochondrial", "shared": 2, "url": "https://dantelabs.com/nl/genes/ears2" }, { "slug": "fars2", "symbol": "FARS2", "name": "phenylalanyl-tRNA synthetase 2, mitochondrial", "shared": 2, "url": "https://dantelabs.com/nl/genes/fars2" }, { "slug": "gfm1", "symbol": "GFM1", "name": "G elongation factor mitochondrial 1", "shared": 2, "url": "https://dantelabs.com/nl/genes/gfm1" }, { "slug": "gfm2", "symbol": "GFM2", "name": "GTP dependent ribosome recycling factor mitochondrial 2", "shared": 2, "url": "https://dantelabs.com/nl/genes/gfm2" }, { "slug": "gtpbp3", "symbol": "GTPBP3", "name": "GTP binding protein 3, mitochondrial", "shared": 2, "url": "https://dantelabs.com/nl/genes/gtpbp3" }, { "slug": "mtfmt", "symbol": "MTFMT", "name": "mitochondrial methionyl-tRNA formyltransferase", "shared": 2, "url": "https://dantelabs.com/nl/genes/mtfmt" }, { "slug": "mtrfr", "symbol": "MTRFR", "name": "mitochondrial translation release factor in rescue", "shared": 2, "url": "https://dantelabs.com/nl/genes/mtrfr" }, { "slug": "pnpt1", "symbol": "PNPT1", "name": "polyribonucleotide nucleotidyltransferase 1", "shared": 2, "url": "https://dantelabs.com/nl/genes/pnpt1" }, { "slug": "tsfm", "symbol": "TSFM", "name": "Ts translation elongation factor, mitochondrial", "shared": 2, "url": "https://dantelabs.com/nl/genes/tsfm" }, { "slug": "aars2", "symbol": "AARS2", "name": "alanyl-tRNA synthetase 2, mitochondrial", "shared": 1, "url": "https://dantelabs.com/nl/genes/aars2" }, { "slug": "atp5f1a", "symbol": "ATP5F1A", "name": "ATP synthase F1 subunit alpha", "shared": 1, "url": "https://dantelabs.com/nl/genes/atp5f1a" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }