{ "url": "https://dantelabs.com/lt/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": "Šeimyninė hipomagnezemija", "diseases": [ { "mondoId": "MONDO:0018100", "name": "Šeimyninė pirminė hipomagnezemija", "genes": 9, "inheritance": null, "description": "Paveldimų magnio netekties sutrikimų grupė, kurią sukelia variantai genuose, pavyzdžiui, CLDN16, CLDN19, TRPM6, CNNM2 ir FXYD2; CLDN16 ir CLDN19 formos gali progresuoti iki lėtinės inkstų ligos.", "management": "Magnio papildai gali kontroliuoti simptomus, o kai kurioms formoms reikalinga inkstų funkcijos ir akių stebėsena.", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/lt/conditions/familial-hypomagnesemia" }, { "slug": "charcot-marie-tooth-disease-type-1", "name": "Charcot-Marie-Tooth liga", "diseases": [ { "mondoId": "MONDO:0015626", "name": "Charcot-Marie-Tooth liga", "genes": 62, "inheritance": null, "description": "Paveldimų periferinių neuropatijų grupė, sukelianti progresuojantį tolimųjų raumenų silpnumą ir nykimą bei jutimo netekimą, daugiausia pėdose ir rankose.", "management": "Genetinė konsultacija, specifinio potipio stebėsena, fizinė terapija, ortozės, neurotoksinių vaistų vengimas, su genais susijusių klinikinių tyrimų galimybės, su liga susijusių požymių stebėjimas", "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/lt/conditions/charcot-marie-tooth-disease-type-1" }, { "slug": "rare-hereditary-peripheral-neuropathies", "name": "Retinės paveldimos periferinės neuropatijos", "diseases": [ { "mondoId": "MONDO:0020127", "name": "Paveldima periferinė neuropatija", "genes": 233, "inheritance": null, "description": "Ją sukelia pakitimai viename iš daugelio genų, reikalingų ilgų nervinių skaidulų sveikatai palaikyti. Šioje ataskaitoje tarp jų yra IGHMBP2 ir PLEKHG5, kurių paveldėjimas yra recesyvinis.", "management": "Fizioterapija, ortozės ir darbo terapija padeda išlaikyti judrumą, esant poreikiui atliekama pėdų deformacijų chirurgija. Kai kurioms formoms reikalingas kvėpavimo stebėjimas. Genetinė konsultacija padeda organizuoti šeimos tyrimus pagal susijusio geno paveldėjimo tipą.", "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/lt/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/lt/genes/aars1" }, { "slug": "aifm1", "symbol": "AIFM1", "name": "apoptosis inducing factor mitochondria associated 1", "shared": 2, "url": "https://dantelabs.com/lt/genes/aifm1" }, { "slug": "cadm3", "symbol": "CADM3", "name": "cell adhesion molecule 3", "shared": 2, "url": "https://dantelabs.com/lt/genes/cadm3" }, { "slug": "cox6a1", "symbol": "COX6A1", "name": "cytochrome c oxidase subunit 6A1", "shared": 2, "url": "https://dantelabs.com/lt/genes/cox6a1" }, { "slug": "dhtkd1", "symbol": "DHTKD1", "name": "dehydrogenase E1 and transketolase domain containing 1", "shared": 2, "url": "https://dantelabs.com/lt/genes/dhtkd1" }, { "slug": "dhx9", "symbol": "DHX9", "name": "DExH-box helicase 9", "shared": 2, "url": "https://dantelabs.com/lt/genes/dhx9" }, { "slug": "dnm2", "symbol": "DNM2", "name": "dynamin 2", "shared": 2, "url": "https://dantelabs.com/lt/genes/dnm2" }, { "slug": "drp2", "symbol": "DRP2", "name": "dystrophin related protein 2", "shared": 2, "url": "https://dantelabs.com/lt/genes/drp2" }, { "slug": "dync1h1", "symbol": "DYNC1H1", "name": "dynein cytoplasmic 1 heavy chain 1", "shared": 2, "url": "https://dantelabs.com/lt/genes/dync1h1" }, { "slug": "egr2", "symbol": "EGR2", "name": "early growth response 2", "shared": 2, "url": "https://dantelabs.com/lt/genes/egr2" }, { "slug": "fbln5", "symbol": "FBLN5", "name": "fibulin 5", "shared": 2, "url": "https://dantelabs.com/lt/genes/fbln5" }, { "slug": "fgd4", "symbol": "FGD4", "name": "FYVE, RhoGEF and PH domain containing 4", "shared": 2, "url": "https://dantelabs.com/lt/genes/fgd4" } ], "sources": { "bundleId": "2026.10.19-9814e911", "panel": "2026-10-19", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }