{ "url": "https://dantelabs.com/hu/genes/hars1", "gene": { "slug": "hars1", "symbol": "HARS1", "name": "histidyl-tRNA synthetase 1", "hgnc": "HGNC:4816", "summary": null, "location": "5q31.3", "locusType": "gene with protein product", "aliases": [ "HisRS" ], "previousSymbols": [ "USH3B", "HARS" ], "ensemblId": "ENSG00000170445", "entrezId": 3035, "omim": [ "142810" ], "uniprot": [ "P12081" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "5", "start": 140673905, "end": 140691370, "strand": "-", "ensemblTranscript": "ENST00000504156.7", "refseqTranscript": "NM_002109.6", "ensemblProtein": "ENSP00000425634.1", "refseqProtein": "NP_002100.2", "exons": [ { "start": 140673905, "end": 140674328 }, { "start": 140674679, "end": 140674825 }, { "start": 140675017, "end": 140675133 }, { "start": 140676654, "end": 140676896 }, { "start": 140676989, "end": 140677116 }, { "start": 140677327, "end": 140677420 }, { "start": 140677655, "end": 140677753 }, { "start": 140677908, "end": 140678015 }, { "start": 140679002, "end": 140679127 }, { "start": 140679788, "end": 140679883 }, { "start": 140683100, "end": 140683219 }, { "start": 140690855, "end": 140690944 }, { "start": 140691215, "end": 140691370 } ], "cds": { "start": 140674257, "end": 140691304 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "5", "start": 140052758, "end": 140071609, "strand": "-" }, "neighbourhood": { "release": "116", "start": 140182638, "end": 141182637, "genes": [ { "symbol": "CYSTM1", "ensemblId": "ENSG00000120306", "biotype": "protein_coding", "start": 140174924, "end": 140282212, "strand": "+", "slug": "cystm1" }, { "symbol": "PFDN1", "ensemblId": "ENSG00000113068", "biotype": "protein_coding", "start": 140234986, "end": 140303119, "strand": "-", "slug": "pfdn1" }, { "symbol": "HBEGF", "ensemblId": "ENSG00000113070", "biotype": "protein_coding", "start": 140332843, "end": 140346614, "strand": "-", "slug": "hbegf" }, { "symbol": "SLC4A9", "ensemblId": "ENSG00000113073", "biotype": "protein_coding", "start": 140360188, "end": 140375324, "strand": "+", "slug": "slc4a9" }, { "symbol": "ANKHD1", "ensemblId": "ENSG00000131503", "biotype": "protein_coding", "start": 140401660, "end": 140541168, "strand": "+", "slug": "ankhd1" }, { "symbol": "ANKHD1-EIF4EBP3", "ensemblId": "ENSG00000254996", "biotype": "protein_coding", "start": 140401908, "end": 140549569, "strand": "+", "slug": "ankhd1-eif4ebp3" }, { "symbol": "SRA1", "ensemblId": "ENSG00000213523", "biotype": "protein_coding", "start": 140536450, "end": 140557920, "strand": "-", "slug": "sra1" }, { "symbol": "EIF4EBP3", "ensemblId": "ENSG00000243056", "biotype": "protein_coding", "start": 140547616, "end": 140551708, "strand": "+", "slug": "eif4ebp3" }, { "symbol": "APBB3", "ensemblId": "ENSG00000113108", "biotype": "protein_coding", "start": 140558268, "end": 140564781, "strand": "-", "slug": "apbb3" }, { "symbol": "SLC35A4", "ensemblId": "ENSG00000176087", "biotype": "protein_coding", "start": 140564440, "end": 140569215, "strand": "+", "slug": "slc35a4" }, { "symbol": "SURMIR", "ensemblId": "ENSG00000293600", "biotype": "protein_coding", "start": 140564440, "end": 140569215, "strand": "+", "slug": "surmir" }, { "symbol": "CD14", "ensemblId": "ENSG00000170458", "biotype": "protein_coding", "start": 140630402, "end": 140633711, "strand": "-", "slug": "cd14" }, { "symbol": "NDUFA2", "ensemblId": "ENSG00000131495", "biotype": "protein_coding", "start": 140638740, "end": 140647823, "strand": "-", "slug": "ndufa2" }, { "symbol": "TMCO6", "ensemblId": "ENSG00000113119", "biotype": "protein_coding", "start": 140639396, "end": 140647730, "strand": "+", "slug": "tmco6" }, { "symbol": "IK", "ensemblId": "ENSG00000113141", "biotype": "protein_coding", "start": 140647058, "end": 140662480, "strand": "+", "slug": "ik" }, { "symbol": "WDR55", "ensemblId": "ENSG00000120314", "biotype": "protein_coding", "start": 140664476, "end": 140674124, "strand": "+", "slug": "wdr55" }, { "symbol": "DND1", "ensemblId": "ENSG00000256453", "biotype": "protein_coding", "start": 140670794, "end": 140673576, "strand": "-", "slug": "dnd1" }, { "symbol": "HARS2", "ensemblId": "ENSG00000112855", "biotype": "protein_coding", "start": 140691422, "end": 140699315, "strand": "+", "slug": "hars2" }, { "symbol": "ZMAT2", "ensemblId": "ENSG00000146007", "biotype": "protein_coding", "start": 140698680, "end": 140707729, "strand": "+", "slug": "zmat2" }, { "symbol": "PCDHA1", "ensemblId": "ENSG00000204970", "biotype": "protein_coding", "start": 140786136, "end": 141012351, "strand": "+", "slug": "pcdha1" }, { "symbol": "PCDHA2", "ensemblId": "ENSG00000204969", "biotype": "protein_coding", "start": 140794845, "end": 141012351, "strand": "+", "slug": "pcdha2" }, { "symbol": "PCDHA3", "ensemblId": "ENSG00000255408", "biotype": "protein_coding", "start": 140801018, "end": 141012351, "strand": "+", "slug": "pcdha3" }, { "symbol": "PCDHA4", "ensemblId": "ENSG00000204967", "biotype": "protein_coding", "start": 140807037, "end": 141012347, "strand": "+", "slug": "pcdha4" }, { "symbol": "PCDHA5", "ensemblId": "ENSG00000204965", "biotype": "protein_coding", "start": 140821599, "end": 141012347, "strand": "+", "slug": "pcdha5" }, { "symbol": "PCDHA6", "ensemblId": "ENSG00000081842", "biotype": "protein_coding", "start": 140827958, "end": 141012351, "strand": "+", "slug": "pcdha6" }, { "symbol": "PCDHA7", "ensemblId": "ENSG00000204963", "biotype": "protein_coding", "start": 140834231, "end": 141012351, "strand": "+", "slug": "pcdha7" }, { "symbol": "PCDHA8", "ensemblId": "ENSG00000204962", "biotype": "protein_coding", "start": 140841185, "end": 141012351, "strand": "+", "slug": "pcdha8" }, { "symbol": "PCDHA9", "ensemblId": "ENSG00000204961", "biotype": "protein_coding", "start": 140847772, "end": 141012351, "strand": "+", "slug": "pcdha9" }, { "symbol": "PCDHA10", "ensemblId": "ENSG00000250120", "biotype": "protein_coding", "start": 140855883, "end": 141012351, "strand": "+", "slug": "pcdha10" }, { "symbol": "PCDHA11", "ensemblId": "ENSG00000249158", "biotype": "protein_coding", "start": 140868183, "end": 141012351, "strand": "+", "slug": "pcdha11" }, { "symbol": "PCDHA12", "ensemblId": "ENSG00000251664", "biotype": "protein_coding", "start": 140875256, "end": 141012351, "strand": "+", "slug": "pcdha12" }, { "symbol": "PCDHA13", "ensemblId": "ENSG00000239389", "biotype": "protein_coding", "start": 140882079, "end": 141012347, "strand": "+", "slug": "pcdha13" }, { "symbol": "PCDHAC1", "ensemblId": "ENSG00000248383", "biotype": "protein_coding", "start": 140926299, "end": 141012351, "strand": "+", "slug": "pcdhac1" }, { "symbol": "PCDHAC2", "ensemblId": "ENSG00000243232", "biotype": "protein_coding", "start": 140966466, "end": 141012351, "strand": "+", "slug": "pcdhac2" }, { "symbol": "PCDHB1", "ensemblId": "ENSG00000171815", "biotype": "protein_coding", "start": 141051374, "end": 141059346, "strand": "+", "slug": "pcdhb1" }, { "symbol": "PCDHB2", "ensemblId": "ENSG00000112852", "biotype": "protein_coding", "start": 141094597, "end": 141098703, "strand": "+", "slug": "pcdhb2" }, { "symbol": "PCDHB3", "ensemblId": "ENSG00000113205", "biotype": "protein_coding", "start": 141100473, "end": 141103827, "strand": "+", "slug": "pcdhb3" }, { "symbol": "PCDHB4", "ensemblId": "ENSG00000081818", "biotype": "protein_coding", "start": 141121818, "end": 141125623, "strand": "+", "slug": "pcdhb4" }, { "symbol": "PCDHB5", "ensemblId": "ENSG00000113209", "biotype": "protein_coding", "start": 141135206, "end": 141138615, "strand": "+", "slug": "pcdhb5" }, { "symbol": "PCDHB6", "ensemblId": "ENSG00000113211", "biotype": "protein_coding", "start": 141150057, "end": 141153287, "strand": "+", "slug": "pcdhb6" }, { "symbol": "PCDHB7", "ensemblId": "ENSG00000113212", "biotype": "protein_coding", "start": 141172644, "end": 141176383, "strand": "+", "slug": "pcdhb7" }, { "symbol": "PCDHB8", "ensemblId": "ENSG00000120322", "biotype": "protein_coding", "start": 141177790, "end": 141182369, "strand": "+", "slug": "pcdhb8" }, { "symbol": "PCDHB16", "ensemblId": "ENSG00000272674", "biotype": "protein_coding", "start": 141182387, "end": 141186226, "strand": "+", "slug": "pcdhb16" } ], "truncated": false }, "reports": [ { "slug": "usher-syndrome", "name": "Usher Syndrome", "diseases": [ { "mondoId": "MONDO:0019501", "name": "Usher Syndrome", "genes": 11, "inheritance": "autosomal-recessive", "description": "A group of recessive conditions (types 1 to 4) causing sensorineural hearing loss, progressive retinitis pigmentosa and, in some types, balance problems, linked to genes such as USH2A, MYO7A, CDH23, PCDH15, USH1C, USH1G, ADGRV1, WHRN, CLRN1 and ARSG.", "management": "An early diagnosis helps with decisions about the timing of cochlear implants, eye monitoring and eligibility for retinal therapy trials, and is relevant to carrier screening.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/hu/conditions/usher-syndrome" }, { "slug": "charcot-marie-tooth-disease-type-1", "name": "Charcot-Marie-Tooth Disease", "diseases": [ { "mondoId": "MONDO:0015626", "name": "Charcot-Marie-Tooth Disease", "genes": 62, "inheritance": null, "description": "A group of inherited peripheral neuropathies causing progressive weakness and wasting of the distal muscles and loss of sensation, mainly in the feet and hands.", "management": "Genetic counseling, subtype-specific monitoring, physical therapy, orthotics, neurotoxic drug avoidance, gene-specific clinical trials, surveillance for associated features", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/hu/conditions/charcot-marie-tooth-disease-type-1" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-cochlea-morphology", "name": "Abnormal cochlea morphology", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-cochlea-morphology" }, { "slug": "abnormal-electroretinogram", "name": "Abnormal electroretinogram", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-electroretinogram" }, { "slug": "abnormal-foot-morphology", "name": "Abnormal feet structure", "systems": [ "abnormality-of-limbs" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-foot-morphology" }, { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gait-disturbance" }, { "slug": "abnormal-vestibular-function", "name": "Abnormal vestibular function", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-vestibular-function" }, { "slug": "absent-achilles-reflex", "name": "Absent ankle reflexes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/absent-achilles-reflex" }, { "slug": "anxiety", "name": "Anxiety", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anxiety" }, { "slug": "scotoma", "name": "Blind spot", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/scotoma" }, { "slug": "hyperactive-patellar-reflex", "name": "Brisk knee jerk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyperactive-patellar-reflex" }, { "slug": "brisk-reflexes", "name": "Brisk reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/brisk-reflexes" }, { "slug": "bull-s-eye-maculopathy", "name": "Bull's eye maculopathy", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/bull-s-eye-maculopathy" }, { "slug": "distal-sensory-impairment", "name": "Decreased sensation in extremities", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/distal-sensory-impairment" }, { "slug": "impaired-distal-tactile-sensation", "name": "Decreased touch sensation in extremities", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/impaired-distal-tactile-sensation" }, { "slug": "delayed-gross-motor-development", "name": "Delayed motor skills", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/delayed-gross-motor-development" }, { "slug": "demyelinating-peripheral-neuropathy", "name": "Demyelinating peripheral neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/demyelinating-peripheral-neuropathy" }, { "slug": "depression", "name": "Depression", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/depression" }, { "slug": "nyctalopia", "name": "Difficulties with night vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/nyctalopia" }, { "slug": "distal-lower-limb-muscle-weakness", "name": "Distal lower limb muscle weakness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/distal-lower-limb-muscle-weakness" }, { "slug": "distal-amyotrophy", "name": "Distal muscle wasting", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/distal-amyotrophy" }, { "slug": "distal-upper-limb-muscle-weakness", "name": "Distal upper limb muscle weakness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/distal-upper-limb-muscle-weakness" }, { "slug": "photophobia", "name": "Extreme sensitivity of the eyes to light", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/photophobia" }, { "slug": "hammertoe", "name": "Hammertoe", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hammertoe" }, { "slug": "hand-muscle-weakness", "name": "Hand muscle weakness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hand-muscle-weakness" }, { "slug": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hearing-impairment" }, { "slug": "steppage-gait", "name": "High stepping", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/steppage-gait" }, { "slug": "pes-cavus", "name": "High-arched foot", "systems": [ "abnormality-of-limbs" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pes-cavus" }, { "slug": "horizontal-nystagmus", "name": "Horizontal nystagmus", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/horizontal-nystagmus" }, { "slug": "impaired-pain-sensation", "name": "Impaired pain sensation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/impaired-pain-sensation" }, { "slug": "impaired-vibration-sensation-in-the-lower-limbs", "name": "Impaired vibration sensation in the lower limbs", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/impaired-vibration-sensation-in-the-lower-limbs" }, { "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": "intrinsic-hand-muscle-atrophy", "name": "Intrinsic hand muscle atrophy", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intrinsic-hand-muscle-atrophy" }, { "slug": "iris-hypopigmentation", "name": "Light eye color", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/iris-hypopigmentation" }, { "slug": "motor-axonal-neuropathy", "name": "Motor axonal neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/motor-axonal-neuropathy" }, { "slug": "attenuation-of-retinal-blood-vessels", "name": "Narrowing of blood vessels in back of eye", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/attenuation-of-retinal-blood-vessels" }, { "slug": "optic-disc-pallor", "name": "Optic disc pallor", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/optic-disc-pallor" }, { "slug": "pain", "name": "Pain", "systems": [ "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pain" }, { "slug": "peripheral-neuropathy", "name": "Peripheral neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/peripheral-neuropathy" }, { "slug": "rod-cone-dystrophy", "name": "Rod-cone dystrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/rod-cone-dystrophy" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "slender-long-bone", "name": "Slender long bone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/slender-long-bone" }, { "slug": "somatic-sensory-dysfunction", "name": "Somatic sensory dysfunction", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/somatic-sensory-dysfunction" }, { "slug": "tip-toe-gait", "name": "Toe walking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tip-toe-gait" }, { "slug": "vestibular-hyporeflexia", "name": "Vestibular hyporeflexia", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/vestibular-hyporeflexia" }, { "slug": "visual-impairment", "name": "Visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/visual-impairment" }, { "slug": "visual-loss", "name": "Visual loss", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/visual-loss" }, { "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": 1, "url": "https://dantelabs.com/hu/genes/aars1" }, { "slug": "adgrv1", "symbol": "ADGRV1", "name": "adhesion G protein-coupled receptor V1", "shared": 1, "url": "https://dantelabs.com/hu/genes/adgrv1" }, { "slug": "aifm1", "symbol": "AIFM1", "name": "apoptosis inducing factor mitochondria associated 1", "shared": 1, "url": "https://dantelabs.com/hu/genes/aifm1" }, { "slug": "arsg", "symbol": "ARSG", "name": "arylsulfatase G", "shared": 1, "url": "https://dantelabs.com/hu/genes/arsg" }, { "slug": "atp1a1", "symbol": "ATP1A1", "name": "ATPase Na+/K+ transporting subunit alpha 1", "shared": 1, "url": "https://dantelabs.com/hu/genes/atp1a1" }, { "slug": "cadm3", "symbol": "CADM3", "name": "cell adhesion molecule 3", "shared": 1, "url": "https://dantelabs.com/hu/genes/cadm3" }, { "slug": "cdh23", "symbol": "CDH23", "name": "cadherin related 23", "shared": 1, "url": "https://dantelabs.com/hu/genes/cdh23" }, { "slug": "clrn1", "symbol": "CLRN1", "name": "clarin 1", "shared": 1, "url": "https://dantelabs.com/hu/genes/clrn1" }, { "slug": "cox6a1", "symbol": "COX6A1", "name": "cytochrome c oxidase subunit 6A1", "shared": 1, "url": "https://dantelabs.com/hu/genes/cox6a1" }, { "slug": "dhtkd1", "symbol": "DHTKD1", "name": "dehydrogenase E1 and transketolase domain containing 1", "shared": 1, "url": "https://dantelabs.com/hu/genes/dhtkd1" }, { "slug": "dhx9", "symbol": "DHX9", "name": "DExH-box helicase 9", "shared": 1, "url": "https://dantelabs.com/hu/genes/dhx9" }, { "slug": "dnm2", "symbol": "DNM2", "name": "dynamin 2", "shared": 1, "url": "https://dantelabs.com/hu/genes/dnm2" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }