{ "url": "https://dantelabs.com/hu/genes/tyrobp", "gene": { "slug": "tyrobp", "symbol": "TYROBP", "name": "transmembrane immune signaling adaptor TYROBP", "hgnc": "HGNC:12449", "summary": null, "location": "19q13.12", "locusType": "gene with protein product", "aliases": [ "DAP12", "PLO-SL", "KARAP" ], "previousSymbols": [ "PLOSL" ], "ensemblId": "ENSG00000011600", "entrezId": 7305, "omim": [ "604142" ], "uniprot": [ "O43914" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "19", "start": 35904403, "end": 35908295, "strand": "-", "ensemblTranscript": "ENST00000262629.9", "refseqTranscript": "NM_003332.4", "ensemblProtein": "ENSP00000262629.3", "refseqProtein": "NP_003323.1", "exons": [ { "start": 35904403, "end": 35904634 }, { "start": 35907218, "end": 35907264 }, { "start": 35907446, "end": 35907580 }, { "start": 35907730, "end": 35907762 }, { "start": 35908168, "end": 35908295 } ], "cds": { "start": 35904569, "end": 35908228 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "19", "start": 36395303, "end": 36399197, "strand": "-" }, "neighbourhood": { "release": "116", "start": 35406349, "end": 36406348, "genes": [ { "symbol": "FFAR2", "ensemblId": "ENSG00000126262", "biotype": "protein_coding", "start": 35443907, "end": 35451767, "strand": "+", "slug": "ffar2" }, { "symbol": "KRTDAP", "ensemblId": "ENSG00000188508", "biotype": "protein_coding", "start": 35487324, "end": 35495558, "strand": "-", "slug": "krtdap" }, { "symbol": "DMKN", "ensemblId": "ENSG00000161249", "biotype": "protein_coding", "start": 35497220, "end": 35513704, "strand": "-", "slug": "dmkn" }, { "symbol": "SBSN", "ensemblId": "ENSG00000189001", "biotype": "protein_coding", "start": 35523367, "end": 35528351, "strand": "-", "slug": "sbsn" }, { "symbol": "GAPDHS", "ensemblId": "ENSG00000105679", "biotype": "protein_coding", "start": 35533455, "end": 35545319, "strand": "+", "slug": "gapdhs" }, { "symbol": "TMEM147", "ensemblId": "ENSG00000105677", "biotype": 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}, { "symbol": "UPK1A", "ensemblId": "ENSG00000105668", "biotype": "protein_coding", "start": 35666516, "end": 35678481, "strand": "+", "slug": "upk1a" }, { "symbol": "ZBTB32", "ensemblId": "ENSG00000011590", "biotype": "protein_coding", "start": 35704558, "end": 35717048, "strand": "+", "slug": "zbtb32" }, { "symbol": "KMT2B", "ensemblId": "ENSG00000272333", "biotype": "protein_coding", "start": 35717973, "end": 35738880, "strand": "+", "slug": "kmt2b" }, { "symbol": "IGFLR1", "ensemblId": "ENSG00000126246", "biotype": "protein_coding", "start": 35738798, "end": 35742459, "strand": "-", "slug": "igflr1" }, { "symbol": "", "ensemblId": "ENSG00000267120", "biotype": "protein_coding", "start": 35739252, "end": 35745432, "strand": "-" }, { "symbol": "U2AF1L4", "ensemblId": "ENSG00000161265", "biotype": "protein_coding", "start": 35742464, "end": 35745460, "strand": "-", "slug": "u2af1l4" }, { "symbol": "PSENEN", "ensemblId": "ENSG00000205155", "biotype": "protein_coding", "start": 35745070, "end": 35747519, "strand": "+", "slug": "psenen" }, { "symbol": "", "ensemblId": "ENSG00000188223", "biotype": "protein_coding", "start": 35745678, "end": 35754519, "strand": "+" }, { "symbol": "LIN37", "ensemblId": "ENSG00000267796", "biotype": "protein_coding", "start": 35748361, "end": 35754519, "strand": "+", "slug": "lin37" }, { "symbol": "HSPB6", "ensemblId": "ENSG00000004776", "biotype": "protein_coding", "start": 35754566, "end": 35758079, "strand": "-", "slug": "hspb6" }, { "symbol": "PROSER3", "ensemblId": "ENSG00000167595", "biotype": "protein_coding", "start": 35758143, "end": 35771398, "strand": "+", "slug": "proser3" }, { "symbol": "ARHGAP33", "ensemblId": "ENSG00000004777", "biotype": "protein_coding", "start": 35774532, "end": 35788822, "strand": "+", "slug": "arhgap33" }, { "symbol": "PRODH2", "ensemblId": "ENSG00000250799", "biotype": "protein_coding", "start": 35799975, "end": 35813299, "strand": "-", "slug": "prodh2" }, { "symbol": "NPHS1", "ensemblId": "ENSG00000161270", "biotype": "protein_coding", "start": 35825372, "end": 35869287, "strand": "-", "slug": "nphs1" }, { "symbol": "KIRREL2", "ensemblId": "ENSG00000126259", "biotype": "protein_coding", "start": 35851369, "end": 35867145, "strand": "+", "slug": "kirrel2" }, { "symbol": "APLP1", "ensemblId": "ENSG00000105290", "biotype": "protein_coding", "start": 35867899, "end": 35879803, "strand": "+", "slug": "aplp1" }, { "symbol": "NFKBID", "ensemblId": "ENSG00000167604", "biotype": "protein_coding", "start": 35887129, "end": 35902303, "strand": "-", "slug": "nfkbid" }, { "symbol": "HCST", "ensemblId": "ENSG00000126264", "biotype": "protein_coding", "start": 35899017, "end": 35904377, "strand": "+", "slug": "hcst" }, { "symbol": "LRFN3", "ensemblId": "ENSG00000126243", "biotype": "protein_coding", "start": 35935358, "end": 35946624, "strand": "+", "slug": "lrfn3" }, { "symbol": "SDHAF1", "ensemblId": "ENSG00000205138", "biotype": "protein_coding", "start": 35995188, "end": 35996312, "strand": "+", "slug": "sdhaf1" }, { "symbol": "SYNE4", "ensemblId": "ENSG00000181392", "biotype": "protein_coding", "start": 36000545, "end": 36008831, "strand": "-", "slug": "syne4" }, { "symbol": "ALKBH6", "ensemblId": "ENSG00000239382", "biotype": "protein_coding", "start": 36009113, "end": 36014297, "strand": "-", "slug": "alkbh6" }, { "symbol": "CLIP3", "ensemblId": "ENSG00000105270", "biotype": "protein_coding", "start": 36014660, "end": 36033343, "strand": "-", "slug": "clip3" }, { "symbol": "THAP8", "ensemblId": "ENSG00000161277", "biotype": "protein_coding", "start": 36033393, "end": 36054739, "strand": "-", "slug": "thap8" }, { "symbol": "WDR62", "ensemblId": "ENSG00000075702", "biotype": "protein_coding", "start": 36054649, "end": 36105112, "strand": "+", "slug": "wdr62" }, { "symbol": "OVOL3", "ensemblId": "ENSG00000105261", "biotype": "protein_coding", "start": 36111116, "end": 36113711, "strand": "+", "slug": "ovol3" }, { "symbol": "POLR2I", "ensemblId": "ENSG00000105258", "biotype": "protein_coding", "start": 36111817, "end": 36115213, "strand": "-", "slug": "polr2i" }, { "symbol": "TBCB", "ensemblId": "ENSG00000105254", "biotype": "protein_coding", "start": 36114289, "end": 36125948, "strand": "+", "slug": "tbcb" }, { "symbol": "CAPNS1", "ensemblId": "ENSG00000126247", "biotype": "protein_coding", "start": 36139953, "end": 36150356, "strand": "+", "slug": "capns1" }, { "symbol": "COX7A1", "ensemblId": "ENSG00000161281", "biotype": "protein_coding", "start": 36150287, "end": 36152699, "strand": "-", "slug": "cox7a1" }, { "symbol": "ZNF565", "ensemblId": "ENSG00000196357", "biotype": "protein_coding", "start": 36181542, "end": 36246257, "strand": "-", "slug": "znf565" }, { "symbol": "ZNF146", "ensemblId": "ENSG00000167635", "biotype": "protein_coding", "start": 36214602, "end": 36239969, "strand": "+", "slug": "znf146" }, { "symbol": "ZFP14", "ensemblId": "ENSG00000142065", "biotype": "protein_coding", "start": 36334453, "end": 36379208, "strand": "-", "slug": "zfp14" }, { "symbol": "ZFP82", "ensemblId": "ENSG00000181007", "biotype": "protein_coding", "start": 36383120, "end": 36418924, "strand": "-", "slug": "zfp82" } ], "truncated": false }, "reports": [ { "slug": "adult-onset-leukodystrophies", "name": "Adult-Onset Leukodystrophies (CSF1R, LMNB1, Nasu-Hakola)", "diseases": [ { "mondoId": "MONDO:0009092", "name": "Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy)", "genes": 2, "inheritance": "autosomal-recessive", "description": "Changes in TYROBP or TREM2 cause bone cysts and fractures in young adulthood, followed by progressive changes in personality and memory.", "management": null, "evidence": { "gencc": [ "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/hu/conditions/adult-onset-leukodystrophies" }, { "slug": "leukodystrophy", "name": "Other Inherited Leukodystrophies", "diseases": [ { "mondoId": "MONDO:0019046", "name": "Leukodystrophy (other and unspecified types)", "genes": 80, "inheritance": null, "description": "Inherited conditions that damage or prevent the normal formation of myelin, the white matter of the brain and spinal cord. Different types follow autosomal recessive, autosomal dominant or X-linked inheritance depending on the gene involved.", "management": "Knowing the specific genetic cause can end a diagnostic search, guide supportive care and surveillance, show whether a specific treatment exists, and allow testing of relatives.", "evidence": { "gencc": [ "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/hu/conditions/leukodystrophy" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "cerebral-calcification", "name": "Abnormal deposits of calcium in the brain", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebral-calcification" }, { "slug": "abnormal-foot-morphology", "name": "Abnormal feet structure", "systems": [ "abnormality-of-limbs" ], "url": "https://dantelabs.com/traits/abnormal-foot-morphology" }, { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/gait-disturbance" }, { "slug": "abnormal-epiphysis-morphology", "name": "Abnormal shape of end part of bone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-epiphysis-morphology" }, { "slug": "abnormal-upper-motor-neuron-morphology", "name": "Abnormal shape of upper motor neuron", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/abnormal-upper-motor-neuron-morphology" }, { "slug": "skeletal-dysplasia", "name": "Abnormal skeletal development", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/skeletal-dysplasia" }, { "slug": "abnormal-speech-pattern", "name": "Abnormal speech pattern", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-speech-pattern" }, { "slug": "abnormal-adipose-tissue-morphology", "name": "Abnormality of adipose tissue", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-adipose-tissue-morphology" }, { "slug": "abnormality-of-movement", "name": "Abnormality of movement", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-movement" }, { "slug": "abnormality-of-the-hand", "name": "Abnormality of the hand", "systems": [ "abnormality-of-limbs" ], "url": "https://dantelabs.com/traits/abnormality-of-the-hand" }, { "slug": "acute-leukemia", "name": "Acute blood cancer", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/acute-leukemia" }, { "slug": "aggressive-behavior", "name": "Aggressive behavior", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/aggressive-behavior" }, { "slug": "apraxia", "name": "Apraxia", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/apraxia" }, { "slug": "axonal-loss", "name": "Axonal loss", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/axonal-loss" }, { "slug": "babinski-sign", "name": "Babinski sign", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/babinski-sign" }, { "slug": "basal-ganglia-calcification", "name": "Basal ganglia calcification", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/basal-ganglia-calcification" }, { "slug": "atypical-behavior", "name": "Behavioral abnormality", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/atypical-behavior" }, { "slug": "bone-cyst", "name": "Bone cyst", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/bone-cyst" }, { "slug": "bone-pain", "name": "Bone pain", "systems": [ "abnormality-of-the-musculoskeletal-system", "constitutional-symptom" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/bone-pain" }, { "slug": "caudate-atrophy", "name": "Caudate atrophy", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/caudate-atrophy" }, { "slug": "chorea", "name": "Chorea", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/chorea" }, { "slug": "cerebral-cortical-atrophy", "name": "Decrease in size of the outer layer of the brain due to loss of brain cells", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/cerebral-cortical-atrophy" }, { "slug": "cerebral-atrophy", "name": "Degeneration of cerebrum", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/cerebral-atrophy" }, { "slug": "dementia", "name": "Dementia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dementia" }, { "slug": "disinhibition", "name": "Disinhibition", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/disinhibition" }, { "slug": "disturbed-sensory-perception", "name": "Disturbed sensory perception", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/disturbed-sensory-perception" }, { "slug": "eeg-abnormality", "name": "EEG abnormality", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/eeg-abnormality" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "euphoria", "name": "Euphoria", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/euphoria" }, { "slug": "frontal-lobe-dementia", "name": "Frontal lobe dementia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/frontal-lobe-dementia" }, { "slug": "functional-abnormality-of-the-gastrointestinal-tract", "name": "Functional abnormality of the gastrointestinal tract", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/functional-abnormality-of-the-gastrointestinal-tract" }, { "slug": "gliosis", "name": "Gliosis", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/gliosis" }, { "slug": "inappropriate-behavior", "name": "Inappropriate behavior", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/inappropriate-behavior" }, { "slug": "spasticity", "name": "Involuntary muscle stiffness, contraction, or spasm", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/spasticity" }, { "slug": "irritability", "name": "Irritability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/irritability" }, { "slug": "myoclonus", "name": "Jerking", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/myoclonus" }, { "slug": "arthralgia", "name": "Joint pain", "systems": [ "constitutional-symptom" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/arthralgia" }, { "slug": "lack-of-insight", "name": "Lack of insight", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/lack-of-insight" }, { "slug": "lateral-ventricle-dilatation", "name": "Lateral ventricle dilatation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/lateral-ventricle-dilatation" }, { "slug": "leukoencephalopathy", "name": "Leukoencephalopathy", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/leukoencephalopathy" }, { "slug": "limitation-of-joint-mobility", "name": "Limitation of joint mobility", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/limitation-of-joint-mobility" }, { "slug": "urinary-incontinence", "name": "Loss of bladder control", "systems": [ "abnormality-of-the-genitourinary-system", "constitutional-symptom" ], "url": "https://dantelabs.com/traits/urinary-incontinence" }, { "slug": "developmental-regression", "name": "Loss of developmental milestones", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/developmental-regression" }, { "slug": "reduced-bone-mineral-density", "name": "Low solidness and mass of the bones", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/reduced-bone-mineral-density" }, { "slug": "memory-impairment", "name": "Memory impairment", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/memory-impairment" }, { "slug": "oculomotor-apraxia", "name": "Oculomotor apraxia", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/oculomotor-apraxia" }, { "slug": "peripheral-demyelination", "name": "Peripheral demyelination", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/peripheral-demyelination" }, { "slug": "personality-changes", "name": "Personality changes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/personality-changes" }, { "slug": "primitive-reflex", "name": "Primitive reflex", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/primitive-reflex" }, { "slug": "pathologic-fracture", "name": "Spontaneous fracture", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/pathologic-fracture" }, { "slug": "hydrocephalus", "name": "Too much cerebrospinal fluid in the brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hydrocephalus" }, { "slug": "hypoplasia-of-the-corpus-callosum", "name": "Underdevelopment of part of brain called corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum" }, { "slug": "ventriculomegaly", "name": "Ventriculomegaly", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/ventriculomegaly" } ], "related": [ { "slug": "trem2", "symbol": "TREM2", "name": "triggering receptor expressed on myeloid cells 2", "shared": 2, "url": "https://dantelabs.com/hu/genes/trem2" }, { "slug": "aars1", "symbol": "AARS1", "name": "alanyl-tRNA synthetase 1", "shared": 1, "url": "https://dantelabs.com/hu/genes/aars1" }, { "slug": "aars2", "symbol": "AARS2", "name": "alanyl-tRNA synthetase 2, mitochondrial", "shared": 1, "url": "https://dantelabs.com/hu/genes/aars2" }, { "slug": "abcd1", "symbol": "ABCD1", "name": "ATP binding cassette subfamily D member 1", "shared": 1, "url": "https://dantelabs.com/hu/genes/abcd1" }, { "slug": "acer3", "symbol": "ACER3", "name": "alkaline ceramidase 3", "shared": 1, "url": "https://dantelabs.com/hu/genes/acer3" }, { "slug": "adar", "symbol": "ADAR", "name": "adenosine deaminase RNA specific", "shared": 1, "url": "https://dantelabs.com/hu/genes/adar" }, { "slug": "aimp1", "symbol": "AIMP1", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1", "shared": 1, "url": "https://dantelabs.com/hu/genes/aimp1" }, { "slug": "aimp2", "symbol": "AIMP2", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 2", "shared": 1, "url": "https://dantelabs.com/hu/genes/aimp2" }, { "slug": "aldh3a2", "symbol": "ALDH3A2", "name": "aldehyde dehydrogenase 3 family member A2", "shared": 1, "url": "https://dantelabs.com/hu/genes/aldh3a2" }, { "slug": "arsa", "symbol": "ARSA", "name": "arylsulfatase A", "shared": 1, "url": "https://dantelabs.com/hu/genes/arsa" }, { "slug": "aspa", "symbol": "ASPA", "name": "aspartoacylase", "shared": 1, "url": "https://dantelabs.com/hu/genes/aspa" }, { "slug": "atp11a", "symbol": "ATP11A", "name": "ATPase phospholipid transporting 11A", "shared": 1, "url": "https://dantelabs.com/hu/genes/atp11a" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }