{ "url": "https://dantelabs.com/it/genes/nop56", "gene": { "slug": "nop56", "symbol": "NOP56", "name": "NOP56 ribonucleoprotein", "hgnc": "HGNC:15911", "summary": null, "location": "20p13", "locusType": "gene with protein product", "aliases": [ "SCA36" ], "previousSymbols": [ "NOL5A" ], "ensemblId": "ENSG00000101361", "entrezId": 10528, "omim": [ "614154" ], "uniprot": [ "O00567" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "20", "start": 2652632, "end": 2658393, "strand": "+", "ensemblTranscript": "ENST00000329276.10", "refseqTranscript": "NM_006392.4", "ensemblProtein": "ENSP00000370589.3", "refseqProtein": "NP_006383.2", "exons": [ { "start": 2652632, "end": 2652663 }, { "start": 2652842, "end": 2652931 }, { "start": 2653279, "end": 2653393 }, { "start": 2654414, "end": 2654575 }, { "start": 2654749, "end": 2654947 }, { "start": 2655325, "end": 2655512 }, { "start": 2655595, "end": 2655746 }, { "start": 2655934, "end": 2656034 }, { "start": 2656401, "end": 2656549 }, { "start": 2656774, "end": 2656895 }, { "start": 2657081, "end": 2657218 }, { "start": 2657929, "end": 2658393 } ], "cds": { "start": 2652661, "end": 2658294 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "20", "start": 2632791, "end": 2639039, "strand": "+" }, "neighbourhood": { "release": "116", "start": 2155513, "end": 3155512, "genes": [ { "symbol": "STK35", "ensemblId": "ENSG00000125834", "biotype": "protein_coding", "start": 2101767, "end": 2177038, "strand": "+", "slug": "stk35" }, { "symbol": "", "ensemblId": "ENSG00000286022", "biotype": "protein_coding", "start": 2207328, "end": 2341059, "strand": "+" }, { "symbol": "TGM3", "ensemblId": "ENSG00000125780", "biotype": "protein_coding", "start": 2295994, "end": 2341177, "strand": "+", "slug": "tgm3" }, { "symbol": "TGM6", "ensemblId": "ENSG00000166948", "biotype": "protein_coding", "start": 2380901, "end": 2432753, "strand": "+", "slug": "tgm6" }, { "symbol": "SNRPB", "ensemblId": "ENSG00000125835", "biotype": "protein_coding", "start": 2461634, "end": 2470884, "strand": "-", "slug": "snrpb" }, { "symbol": "", "ensemblId": "ENSG00000256566", "biotype": "protein_coding", "start": 2467212, "end": 2508907, "strand": "-" }, { "symbol": "ZNF343", "ensemblId": "ENSG00000088876", "biotype": "protein_coding", "start": 2471467, "end": 2525028, "strand": "-", "slug": "znf343" }, { "symbol": "TMC2", "ensemblId": "ENSG00000149488", "biotype": "protein_coding", "start": 2536573, "end": 2643580, "strand": "+", "slug": "tmc2" }, { "symbol": "IDH3B", "ensemblId": "ENSG00000101365", "biotype": "protein_coding", "start": 2658393, "end": 2664219, "strand": "-", "slug": "idh3b" }, { "symbol": "EBF4", "ensemblId": "ENSG00000088881", "biotype": "protein_coding", "start": 2692724, "end": 2760228, "strand": "+", "slug": "ebf4" }, { "symbol": "CPXM1", "ensemblId": "ENSG00000088882", "biotype": "protein_coding", "start": 2794069, "end": 2800835, "strand": "-", "slug": "cpxm1" }, { "symbol": "", "ensemblId": "ENSG00000241690", "biotype": "protein_coding", "start": 2814968, "end": 2818066, "strand": "+" }, { "symbol": "C20orf141", "ensemblId": "ENSG00000258713", "biotype": "protein_coding", "start": 2814987, "end": 2815833, "strand": "+", "slug": "c20orf141" }, { "symbol": "TMEM239", "ensemblId": "ENSG00000198326", "biotype": "protein_coding", "start": 2816302, "end": 2820284, "strand": "+", "slug": "tmem239" }, { "symbol": "PCED1A", "ensemblId": "ENSG00000132635", "biotype": "protein_coding", "start": 2835070, "end": 2841190, "strand": "-", "slug": "pced1a" }, { "symbol": "VPS16", "ensemblId": "ENSG00000215305", "biotype": "protein_coding", "start": 2840689, "end": 2867031, "strand": "+", "slug": "vps16" }, { "symbol": "PTPRA", "ensemblId": "ENSG00000132670", "biotype": "protein_coding", "start": 2870754, "end": 3039247, "strand": "+", "slug": "ptpra" }, { "symbol": "GNRH2", "ensemblId": "ENSG00000125787", "biotype": "protein_coding", "start": 3042814, "end": 3045747, "strand": "+", "slug": "gnrh2" }, { "symbol": "MRPS26", "ensemblId": "ENSG00000125901", "biotype": "protein_coding", "start": 3046016, "end": 3048254, "strand": "+", "slug": "mrps26" }, { "symbol": "OXT", "ensemblId": "ENSG00000101405", "biotype": "protein_coding", "start": 3071476, "end": 3072517, "strand": "+", "slug": "oxt" }, { "symbol": "AVP", "ensemblId": "ENSG00000101200", "biotype": "protein_coding", "start": 3082556, "end": 3084724, "strand": "-", "slug": "avp" }, { "symbol": "UBOX5", "ensemblId": "ENSG00000185019", "biotype": "protein_coding", "start": 3107573, "end": 3160196, "strand": "-", "slug": "ubox5" }, { "symbol": "FASTKD5", "ensemblId": "ENSG00000215251", "biotype": "protein_coding", "start": 3146519, "end": 3160196, "strand": "-", "slug": "fastkd5" } ], "truncated": false }, "reports": [ { "slug": "autosomal-dominant-cerebellar-ataxias", "name": "Atassie cerebellari autosomiche dominanti (SCA e DRPLA)", "diseases": [ { "mondoId": "MONDO:0020380", "name": "Atassia cerebellare autosomica dominante", "genes": 36, "inheritance": "autosomal-dominant", "description": "Un gruppo di atassie a trasmissione dominante, tra cui SCA1, SCA2, SCA3 (malattia di Machado-Joseph), SCA6, SCA7, SCA17, SCA27B e DRPLA, causate da espansioni di sequenze ripetute o varianti puntiformi in geni quali ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, ATN1 e FGF14.", "management": "Consulenza genetica e test presintomatico per i familiari, fisioterapia e gestione dei sintomi; alcune forme, come la SCA27B, possono rispondere a terapie farmacologiche specifiche.", "evidence": { "gencc": [ "Ambry Genetics", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/it/conditions/autosomal-dominant-cerebellar-ataxias" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gait-disturbance" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/ataxia" }, { "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": "blurred-vision", "name": "Blurred vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/blurred-vision" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "vertigo", "name": "Dizziness", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/vertigo" }, { "slug": "diplopia", "name": "Double vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/diplopia" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "emg-neuropathic-changes", "name": "EMG: neuropathic changes", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/emg-neuropathic-changes" }, { "slug": "hand-tremor", "name": "Hand tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hand-tremor" }, { "slug": "head-tremor", "name": "Head tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/head-tremor" }, { "slug": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hearing-impairment" }, { "slug": "impaired-smooth-pursuit", "name": "Impaired smooth pursuit", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/impaired-smooth-pursuit" }, { "slug": "gait-ataxia", "name": "Inability to coordinate movements when walking", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/gait-ataxia" }, { "slug": "incoordination", "name": "Incoordination", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/incoordination" }, { "slug": "hyperreflexia", "name": "Increased reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyperreflexia" }, { "slug": "truncal-ataxia", "name": "Instability or lack of coordination of central trunk muscles", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/truncal-ataxia" }, { "slug": "intention-tremor", "name": "Intention tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/intention-tremor" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "dysmetria", "name": "Lack of coordination of movement", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysmetria" }, { "slug": "limb-ataxia", "name": "Limb ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/limb-ataxia" }, { "slug": "limb-myoclonus", "name": "Limb myoclonus", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/limb-myoclonus" }, { "slug": "bowel-incontinence", "name": "Loss of bowel control", "systems": [ "abnormality-of-the-digestive-system", "constitutional-symptom" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/bowel-incontinence" }, { "slug": "loss-of-purkinje-cells-in-the-cerebellar-vermis", "name": "Loss of Purkinje cells in the cerebellar vermis", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/loss-of-purkinje-cells-in-the-cerebellar-vermis" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "migraine", "name": "Migraine", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/migraine" }, { "slug": "skeletal-muscle-atrophy", "name": "Muscle degeneration", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy" }, { "slug": "fasciculations", "name": "Muscle twitch", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/fasciculations" }, { "slug": "muscle-weakness", "name": "Muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/muscle-weakness" }, { "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": "slow-saccadic-eye-movements", "name": "Slow eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/slow-saccadic-eye-movements" }, { "slug": "hypertonia", "name": "Spasticity and rigidity of muscles", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypertonia" }, { "slug": "tongue-fasciculations", "name": "Tongue twitching", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/tongue-fasciculations" }, { "slug": "vertical-supranuclear-gaze-palsy", "name": "Vertical supranuclear gaze palsy", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/vertical-supranuclear-gaze-palsy" }, { "slug": "tongue-atrophy", "name": "Wasting of the tongue", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/tongue-atrophy" } ], "related": [ { "slug": "afg3l2", "symbol": "AFG3L2", "name": "AFG3 like matrix AAA peptidase subunit 2", "shared": 1, "url": "https://dantelabs.com/it/genes/afg3l2" }, { "slug": "atn1", "symbol": "ATN1", "name": "atrophin 1", "shared": 1, "url": "https://dantelabs.com/it/genes/atn1" }, { "slug": "atp1a3", "symbol": "ATP1A3", "name": "ATPase Na+/K+ transporting subunit alpha 3", "shared": 1, "url": "https://dantelabs.com/it/genes/atp1a3" }, { "slug": "atxn1", "symbol": "ATXN1", "name": "ataxin 1", "shared": 1, "url": "https://dantelabs.com/it/genes/atxn1" }, { "slug": "atxn10", "symbol": "ATXN10", "name": "ataxin 10", "shared": 1, "url": "https://dantelabs.com/it/genes/atxn10" }, { "slug": "atxn2", "symbol": "ATXN2", "name": "ataxin 2", "shared": 1, "url": "https://dantelabs.com/it/genes/atxn2" }, { "slug": "atxn3", "symbol": "ATXN3", "name": "ataxin 3", "shared": 1, "url": "https://dantelabs.com/it/genes/atxn3" }, { "slug": "atxn7", "symbol": "ATXN7", "name": "ataxin 7", "shared": 1, "url": "https://dantelabs.com/it/genes/atxn7" }, { "slug": "bean1", "symbol": "BEAN1", "name": "brain expressed associated with NEDD4 1", "shared": 1, "url": "https://dantelabs.com/it/genes/bean1" }, { "slug": "cacna1a", "symbol": "CACNA1A", "name": "calcium voltage-gated channel subunit alpha1 A", "shared": 1, "url": "https://dantelabs.com/it/genes/cacna1a" }, { "slug": "cacna1g", "symbol": "CACNA1G", "name": "calcium voltage-gated channel subunit alpha1 G", "shared": 1, "url": "https://dantelabs.com/it/genes/cacna1g" }, { "slug": "camta1", "symbol": "CAMTA1", "name": "calmodulin binding transcription activator 1", "shared": 1, "url": "https://dantelabs.com/it/genes/camta1" } ], "sources": { "bundleId": "2026.10.16-c6eea6bf", "panel": "2026-10-16", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }