{ "url": "https://dantelabs.com/lt/genes/timm8a", "gene": { "slug": "timm8a", "symbol": "TIMM8A", "name": "translocase of inner mitochondrial membrane 8A", "hgnc": "HGNC:11817", "summary": null, "location": "Xq22.1", "locusType": "gene with protein product", "aliases": [ "DDP", "MTS" ], "previousSymbols": [ "DFN1" ], "ensemblId": "ENSG00000126953", "entrezId": 1678, "omim": [ "300356" ], "uniprot": [ "O60220" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "X", "start": 101345661, "end": 101348742, "strand": "-", "ensemblTranscript": "ENST00000372902.4", "refseqTranscript": "NM_004085.4", "ensemblProtein": "ENSP00000361993.3", "refseqProtein": "NP_004076.1", "exons": [ { "start": 101345661, "end": 101346660 }, { "start": 101348533, "end": 101348742 } ], "cds": { "start": 101346499, "end": 101348664 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "X", "start": 100600649, "end": 100604184, "strand": "-" }, "neighbourhood": { "release": "116", "start": 100847202, "end": 101847201, "genes": [ { "symbol": "NOX1", "ensemblId": "ENSG00000007952", "biotype": "protein_coding", "start": 100843324, "end": 100874464, "strand": "-", "slug": "nox1" }, { "symbol": "XKRX", "ensemblId": "ENSG00000182489", "biotype": "protein_coding", "start": 100886924, "end": 100929433, "strand": "-", "slug": "xkrx" }, { "symbol": "ARL13A", "ensemblId": "ENSG00000174225", "biotype": "protein_coding", "start": 100969708, "end": 100990831, "strand": "+", "slug": "arl13a" }, { "symbol": "TRMT2B", "ensemblId": "ENSG00000188917", "biotype": "protein_coding", "start": 100973670, "end": 101052135, "strand": "-", "slug": "trmt2b" }, { "symbol": "TMEM35A", "ensemblId": "ENSG00000126950", "biotype": "protein_coding", "start": 101078870, "end": 101096367, "strand": "+", "slug": "tmem35a" }, { "symbol": "CENPI", "ensemblId": "ENSG00000102384", "biotype": "protein_coding", "start": 101098150, "end": 101166126, "strand": "+", "slug": "cenpi" }, { "symbol": "DRP2", "ensemblId": "ENSG00000102385", "biotype": "protein_coding", "start": 101219723, "end": 101264502, "strand": "+", "slug": "drp2" }, { "symbol": "TAF7L", "ensemblId": "ENSG00000102387", "biotype": "protein_coding", "start": 101268253, "end": 101293057, "strand": "-", "slug": "taf7l" }, { "symbol": "BTK", "ensemblId": "ENSG00000010671", "biotype": "protein_coding", "start": 101349338, "end": 101390796, "strand": "-", "slug": "btk" }, { "symbol": "RPL36A", "ensemblId": "ENSG00000241343", "biotype": "protein_coding", "start": 101390824, "end": 101396155, "strand": "+", "slug": "rpl36a" }, { "symbol": "RPL36A-HNRNPH2", "ensemblId": "ENSG00000257529", "biotype": "protein_coding", "start": 101391011, "end": 101412297, "strand": "+", "slug": "rpl36a-hnrnph2" }, { "symbol": "GLA", "ensemblId": "ENSG00000102393", "biotype": "protein_coding", "start": 101393273, "end": 101408012, "strand": "-", "slug": "gla" }, { "symbol": "HNRNPH2", "ensemblId": "ENSG00000126945", "biotype": "protein_coding", "start": 101408114, "end": 101414778, "strand": "+", "slug": "hnrnph2" }, { "symbol": "ARMCX4", "ensemblId": "ENSG00000196440", "biotype": "protein_coding", "start": 101418269, "end": 101535551, "strand": "+", "slug": "armcx4" }, { "symbol": "ARMCX1", "ensemblId": "ENSG00000126947", "biotype": "protein_coding", "start": 101550411, "end": 101554704, "strand": "+", "slug": "armcx1" }, { "symbol": "ARMCX6", "ensemblId": "ENSG00000198960", "biotype": "protein_coding", "start": 101615118, "end": 101618011, "strand": "-", "slug": "armcx6" }, { "symbol": "ARMCX3", "ensemblId": "ENSG00000102401", "biotype": "protein_coding", "start": 101622797, "end": 101627843, "strand": "+", "slug": "armcx3" }, { "symbol": "ARMCX2", "ensemblId": "ENSG00000184867", "biotype": "protein_coding", "start": 101654024, "end": 101659924, "strand": "-", "slug": "armcx2" } ], "truncated": false }, "reports": [ { "slug": "deafness-dystonia-optic-neuronopathy", "name": "Kurčiųjų-distonijos-optinės neuronopatijos sindromas", "diseases": [ { "mondoId": "MONDO:0010578", "name": "Kurčiųjų-distonijos-optinės neuronopatijos (Mohr-Tranebjaerg) sindromas", "genes": 1, "inheritance": "x-linked-recessive", "description": "Su X chromosoma susijęs sutrikimas, sukeltas TIMM8A pakitimų. Klausos praradimas prasideda ankstyvoje vaikystėje, vėliau atsiranda distonija ir regos nervo atrofija.", "management": "Jį atpažinus anksti, galima nesupainioti su izoliuotu klausos praradimu ir pasiūlyti konsultaciją šeimos moterims nešiotojoms.", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/lt/conditions/deafness-dystonia-optic-neuronopathy" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-cochlea-morphology", "name": "Abnormal cochlea morphology", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-cochlea-morphology" }, { "slug": "color-vision-defect", "name": "Abnormal color vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/color-vision-defect" }, { "slug": "abnormal-electroretinogram", "name": "Abnormal electroretinogram", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/abnormal-electroretinogram" }, { "slug": "abnormal-posturing", "name": "Abnormal posturing", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/abnormal-posturing" }, { "slug": "abnormal-pyramidal-sign", "name": "Abnormal pyramidal sign", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-pyramidal-sign" }, { "slug": "ankle-clonus", "name": "Abnormal rhythmic movements of ankle", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ankle-clonus" }, { "slug": "abnormal-vestibular-function", "name": "Abnormal vestibular function", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-vestibular-function" }, { "slug": "abnormality-of-somatosensory-evoked-potentials", "name": "Abnormality of somatosensory evoked potentials", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-somatosensory-evoked-potentials" }, { "slug": "abnormality-of-visual-evoked-potentials", "name": "Abnormality of visual evoked potentials", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-visual-evoked-potentials" }, { "slug": "absent-brainstem-auditory-responses", "name": "Absent brainstem auditory responses", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/absent-brainstem-auditory-responses" }, { "slug": "agammaglobulinemia", "name": "Agammaglobulinemia", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/agammaglobulinemia" }, { "slug": "apraxia", "name": "Apraxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/apraxia" }, { "slug": "aspiration-pneumonia", "name": "Aspiration pneumonia", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aspiration-pneumonia" }, { "slug": "attention-deficit-hyperactivity-disorder", "name": "Attention deficit", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/attention-deficit-hyperactivity-disorder" }, { "slug": "babinski-sign", "name": "Babinski sign", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/babinski-sign" }, { "slug": "postural-instability", "name": "Balance impairment", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/postural-instability" }, { "slug": "atypical-behavior", "name": "Behavioral abnormality", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/atypical-behavior" }, { "slug": "central-scotoma", "name": "Blind spot located at fixation point", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/central-scotoma" }, { "slug": "caudate-atrophy", "name": "Caudate atrophy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/caudate-atrophy" }, { "slug": "cerebral-visual-impairment", "name": "Cerebral visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cerebral-visual-impairment" }, { "slug": "myopia", "name": "Close sighted", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/myopia" }, { "slug": "sensory-neuropathy", "name": "Damage to nerves that sense feeling", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sensory-neuropathy" }, { "slug": "reduced-visual-acuity", "name": "Decreased clarity of vision", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/reduced-visual-acuity" }, { "slug": "dementia", "name": "Dementia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dementia" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "dystonia", "name": "Dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dystonia" }, { "slug": "photophobia", "name": "Extreme sensitivity of the eyes to light", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/photophobia" }, { "slug": "focal-dystonia", "name": "Focal dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/focal-dystonia" }, { "slug": "global-brain-atrophy", "name": "Generalized brain degeneration", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/global-brain-atrophy" }, { "slug": "generalized-dystonia", "name": "Generalized dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/generalized-dystonia" }, { "slug": "hyperactive-deep-tendon-reflexes", "name": "Hyperactive deep tendon reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperactive-deep-tendon-reflexes" }, { "slug": "inability-to-walk", "name": "Inability to walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/inability-to-walk" }, { "slug": "hyperreflexia", "name": "Increased reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyperreflexia" }, { "slug": "increased-susceptibility-to-fractures", "name": "Increased susceptibility to fractures", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/increased-susceptibility-to-fractures" }, { "slug": "mild-intellectual-disability", "name": "Intellectual disability, mild", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/mild-intellectual-disability" }, { "slug": "intrinsic-hand-muscle-atrophy", "name": "Intrinsic hand muscle atrophy", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/intrinsic-hand-muscle-atrophy" }, { "slug": "spasticity", "name": "Involuntary muscle stiffness, contraction, or spasm", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/spasticity" }, { "slug": "constriction-of-peripheral-visual-field", "name": "Limited peripheral vision", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/constriction-of-peripheral-visual-field" }, { "slug": "mental-deterioration", "name": "Mental deterioration", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/mental-deterioration" }, { "slug": "optic-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/optic-atrophy" }, { "slug": "oromandibular-dystonia", "name": "Oromandibular dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/oromandibular-dystonia" }, { "slug": "paranoia", "name": "Paranoia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/paranoia" }, { "slug": "peripheral-neuropathy", "name": "Peripheral neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/peripheral-neuropathy" }, { "slug": "personality-changes", "name": "Personality changes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/personality-changes" }, { "slug": "dysphagia", "name": "Poor swallowing", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dysphagia" }, { "slug": "postlingual-sensorineural-hearing-impairment", "name": "Postlingual sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/postlingual-sensorineural-hearing-impairment" }, { "slug": "prelingual-sensorineural-hearing-impairment", "name": "Prelingual sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/prelingual-sensorineural-hearing-impairment" }, { "slug": "progressive-sensorineural-hearing-impairment", "name": "Progressive sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "url": "https://dantelabs.com/traits/progressive-sensorineural-hearing-impairment" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "shuffling-gait", "name": "Shuffled walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/shuffling-gait" }, { "slug": "tremor", "name": "Tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tremor" }, { "slug": "visual-impairment", "name": "Visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/visual-impairment" }, { "slug": "visual-loss", "name": "Visual loss", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/visual-loss" } ], "related": [], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }