{ "url": "https://dantelabs.com/ro/genes/atp1a1", "gene": { "slug": "atp1a1", "symbol": "ATP1A1", "name": "ATPase Na+/K+ transporting subunit alpha 1", "hgnc": "HGNC:799", "summary": null, "location": "1p13.1", "locusType": "gene with protein product", "aliases": [], "previousSymbols": [], "ensemblId": "ENSG00000163399", "entrezId": 476, "omim": [ "182310" ], "uniprot": [ "P05023" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "1", "start": 116373244, "end": 116404774, "strand": "+", "ensemblTranscript": "ENST00000295598.10", "refseqTranscript": "NM_000701.8", "ensemblProtein": "ENSP00000295598.5", "refseqProtein": "NP_000692.2", "exons": [ { "start": 116373244, "end": 116373523 }, { "start": 116384014, "end": 116384124 }, { "start": 116384783, "end": 116384842 }, { "start": 116387288, "end": 116387491 }, { "start": 116388131, "end": 116388244 }, { "start": 116388638, "end": 116388772 }, { "start": 116388902, "end": 116389019 }, { "start": 116389439, "end": 116389707 }, { "start": 116390213, "end": 116390411 }, { "start": 116390782, "end": 116390891 }, { "start": 116392854, "end": 116392988 }, { "start": 116393531, "end": 116393723 }, { "start": 116395110, "end": 116395285 }, { "start": 116396598, "end": 116396734 }, { "start": 116397888, "end": 116398038 }, { "start": 116398621, "end": 116398789 }, { "start": 116398930, "end": 116399084 }, { "start": 116399420, "end": 116399543 }, { "start": 116400861, "end": 116401006 }, { "start": 116401130, "end": 116401260 }, { "start": 116401554, "end": 116401655 }, { "start": 116403884, "end": 116403975 }, { "start": 116404416, "end": 116404774 } ], "cds": { "start": 116373512, "end": 116404444 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "1", "start": 116915290, "end": 116952883, "strand": "+" }, "neighbourhood": { "release": "116", "start": 115889009, "end": 116889008, "genes": [ { "symbol": "SLC22A15", "ensemblId": "ENSG00000163393", "biotype": "protein_coding", "start": 115976310, "end": 116072747, "strand": "+", "slug": "slc22a15" }, { "symbol": "MAB21L3", "ensemblId": "ENSG00000173212", "biotype": "protein_coding", "start": 116111068, "end": 116138149, "strand": "+", "slug": "mab21l3" }, { "symbol": "CD58", "ensemblId": "ENSG00000116815", "biotype": "protein_coding", "start": 116499485, "end": 116571061, "strand": "-", "slug": "cd58" }, { "symbol": "IGSF3", "ensemblId": "ENSG00000143061", "biotype": "protein_coding", "start": 116574393, "end": 116667820, "strand": "-", "slug": "igsf3" }, { "symbol": "CD2", "ensemblId": "ENSG00000116824", "biotype": "protein_coding", "start": 116754370, "end": 116769229, "strand": "+", "slug": "cd2" } ], "truncated": false }, "reports": [ { "slug": "familial-hypomagnesemia", "name": "Hipomagnezemia familială", "diseases": [ { "mondoId": "MONDO:0018100", "name": "Hipomagnezemia primară familială", "genes": 9, "inheritance": null, "description": "Un grup de tulburări ereditare de pierdere a magneziului, cauzate de variante ale unor gene precum CLDN16, CLDN19, TRPM6, CNNM2 și FXYD2; formele asociate cu CLDN16 și CLDN19 pot evolua spre boală renală cronică.", "management": "Suplimentarea cu magneziu poate controla simptomele, iar unele forme necesită monitorizarea funcției renale și a ochilor.", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/ro/conditions/familial-hypomagnesemia" }, { "slug": "charcot-marie-tooth-disease-type-1", "name": "Boala Charcot-Marie-Tooth", "diseases": [ { "mondoId": "MONDO:0015626", "name": "Boala Charcot-Marie-Tooth", "genes": 62, "inheritance": null, "description": "Un grup de neuropatii periferice ereditare care provoacă slăbiciune progresivă și atrofierea mușchilor distali, precum și pierderea sensibilității, mai ales la nivelul picioarelor și al mâinilor.", "management": "Consiliere genetică, monitorizare specifică subtipului, kinetoterapie, ortezare, evitarea medicamentelor neurotoxice, studii clinice specifice genelor, supraveghere pentru manifestările asociate", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/ro/conditions/charcot-marie-tooth-disease-type-1" }, { "slug": "rare-hereditary-peripheral-neuropathies", "name": "Neuropatii periferice ereditare rare", "diseases": [ { "mondoId": "MONDO:0020127", "name": "Neuropatie periferică ereditară", "genes": 233, "inheritance": null, "description": "Cauzată de modificări ale uneia dintre numeroasele gene necesare pentru menținerea sănătății fibrelor nervoase lungi. În acest raport, acestea includ IGHMBP2 și PLEKHG5, care sunt recesive.", "management": "Fizioterapia, ortezele și terapia ocupațională ajută la menținerea mobilității, iar intervenția chirurgicală pentru deformările piciorului se efectuează atunci când este necesar. Unele forme necesită monitorizarea funcției respiratorii. Consilierea genetică ghidează testarea membrilor familiei în funcție de modelul de transmitere al genei implicate.", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/ro/conditions/rare-hereditary-peripheral-neuropathies" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "areflexia", "name": "Absent reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/areflexia" }, { "slug": "autistic-behavior", "name": "Autism spectrum disorder", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/autistic-behavior" }, { "slug": "hyporeflexia", "name": "Decreased reflex response", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/hyporeflexia" }, { "slug": "delayed-gross-motor-development", "name": "Delayed motor skills", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/delayed-gross-motor-development" }, { "slug": "distal-amyotrophy", "name": "Distal muscle wasting", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/distal-amyotrophy" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "foot-dorsiflexor-weakness", "name": "Foot drop", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/foot-dorsiflexor-weakness" }, { "slug": "generalized-onset-seizure", "name": "Generalized-onset seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/generalized-onset-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": "steppage-gait", "name": "High stepping", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/steppage-gait" }, { "slug": "pes-cavus", "name": "High-arched foot", "systems": [ "abnormality-of-limbs" ], "url": "https://dantelabs.com/traits/pes-cavus" }, { "slug": "impaired-distal-vibration-sensation", "name": "Impaired distal vibration sensation", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/impaired-distal-vibration-sensation" }, { "slug": "nephrocalcinosis", "name": "Increased calcium level in kidney", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/nephrocalcinosis" }, { "slug": "polyuria", "name": "Increased urine output", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/polyuria" }, { "slug": "hypomagnesemia", "name": "Low blood magnesium levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypomagnesemia" }, { "slug": "hypokalemia", "name": "Low blood potassium levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypokalemia" }, { "slug": "hyperactivity", "name": "More active than typical", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperactivity" }, { "slug": "muscle-spasm", "name": "Muscle spasm", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/muscle-spasm" }, { "slug": "sensorimotor-neuropathy", "name": "Nerve damage causing decreased feeling and movement", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/sensorimotor-neuropathy" }, { "slug": "poor-speech", "name": "Poor speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/poor-speech" }, { "slug": "episodic-hypokalemia", "name": "Recurrent low potassium", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/episodic-hypokalemia" }, { "slug": "renal-magnesium-wasting", "name": "Renal magnesium wasting", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/renal-magnesium-wasting" }, { "slug": "renal-potassium-wasting", "name": "Renal potassium wasting", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/renal-potassium-wasting" }, { "slug": "status-epilepticus", "name": "Repeated seizures without recovery between them", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/status-epilepticus" }, { "slug": "self-biting", "name": "Self-biting", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/self-biting" }, { "slug": "cerebral-hypoplasia", "name": "Small cerebrum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebral-hypoplasia" }, { "slug": "ventriculomegaly", "name": "Ventriculomegaly", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ventriculomegaly" }, { "slug": "distal-muscle-weakness", "name": "Weakness of outermost muscles", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/distal-muscle-weakness" } ], "related": [ { "slug": "aars1", "symbol": "AARS1", "name": "alanyl-tRNA synthetase 1", "shared": 2, "url": "https://dantelabs.com/ro/genes/aars1" }, { "slug": "aifm1", "symbol": "AIFM1", "name": "apoptosis inducing factor mitochondria associated 1", "shared": 2, "url": "https://dantelabs.com/ro/genes/aifm1" }, { "slug": "cadm3", "symbol": "CADM3", "name": "cell adhesion molecule 3", "shared": 2, "url": "https://dantelabs.com/ro/genes/cadm3" }, { "slug": "cox6a1", "symbol": "COX6A1", "name": "cytochrome c oxidase subunit 6A1", "shared": 2, "url": "https://dantelabs.com/ro/genes/cox6a1" }, { "slug": "dhtkd1", "symbol": "DHTKD1", "name": "dehydrogenase E1 and transketolase domain containing 1", "shared": 2, "url": "https://dantelabs.com/ro/genes/dhtkd1" }, { "slug": "dhx9", "symbol": "DHX9", "name": "DExH-box helicase 9", "shared": 2, "url": "https://dantelabs.com/ro/genes/dhx9" }, { "slug": "dnm2", "symbol": "DNM2", "name": "dynamin 2", "shared": 2, "url": "https://dantelabs.com/ro/genes/dnm2" }, { "slug": "drp2", "symbol": "DRP2", "name": "dystrophin related protein 2", "shared": 2, "url": "https://dantelabs.com/ro/genes/drp2" }, { "slug": "dync1h1", "symbol": "DYNC1H1", "name": "dynein cytoplasmic 1 heavy chain 1", "shared": 2, "url": "https://dantelabs.com/ro/genes/dync1h1" }, { "slug": "egr2", "symbol": "EGR2", "name": "early growth response 2", "shared": 2, "url": "https://dantelabs.com/ro/genes/egr2" }, { "slug": "fbln5", "symbol": "FBLN5", "name": "fibulin 5", "shared": 2, "url": "https://dantelabs.com/ro/genes/fbln5" }, { "slug": "fgd4", "symbol": "FGD4", "name": "FYVE, RhoGEF and PH domain containing 4", "shared": 2, "url": "https://dantelabs.com/ro/genes/fgd4" } ], "sources": { "bundleId": "2026.10.19-9814e911", "panel": "2026-10-19", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }