{ "url": "https://dantelabs.com/nl/genes/itpa", "gene": { "slug": "itpa", "symbol": "ITPA", "name": "inosine triphosphatase", "hgnc": "HGNC:6176", "summary": null, "location": "20p13", "locusType": "gene with protein product", "aliases": [ "HLC14-06-P", "dJ794I6.3" ], "previousSymbols": [ "C20orf37" ], "ensemblId": "ENSG00000125877", "entrezId": 3704, "omim": [ "147520" ], "uniprot": [ "Q9BY32" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "20", "start": 3209498, "end": 3223860, "strand": "+", "ensemblTranscript": "ENST00000380113.8", "refseqTranscript": "NM_033453.4", "ensemblProtein": "ENSP00000369456.3", "refseqProtein": "NP_258412.1", "exons": [ { "start": 3209498, "end": 3209617 }, { "start": 3213169, "end": 3213226 }, { "start": 3213319, "end": 3213383 }, { "start": 3213985, "end": 3214058 }, { "start": 3215281, "end": 3215312 }, { "start": 3218517, "end": 3218632 }, { "start": 3221841, "end": 3221917 }, { "start": 3223366, "end": 3223860 } ], "cds": { "start": 3209552, "end": 3223462 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "20", "start": 3189514, "end": 3204516, "strand": "+" }, "neighbourhood": { "release": "116", "start": 2716679, "end": 3716678, "genes": [ { "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" }, { "symbol": "LZTS3", "ensemblId": "ENSG00000088899", "biotype": "protein_coding", "start": 3162617, "end": 3174504, "strand": "-", "slug": "lzts3" }, { "symbol": "DDRGK1", "ensemblId": "ENSG00000198171", "biotype": "protein_coding", "start": 3188734, "end": 3204700, "strand": "-", "slug": "ddrgk1" }, { "symbol": "SLC4A11", "ensemblId": "ENSG00000088836", "biotype": "protein_coding", "start": 3227417, "end": 3239580, "strand": "-", "slug": "slc4a11" }, { "symbol": "DNAAF9", "ensemblId": "ENSG00000088854", "biotype": "protein_coding", "start": 3249295, "end": 3407942, "strand": "-", "slug": "dnaaf9" }, { "symbol": "ATRN", "ensemblId": "ENSG00000088812", "biotype": "protein_coding", "start": 3470965, "end": 3651118, "strand": "+", "slug": "atrn" }, { "symbol": "GFRA4", "ensemblId": "ENSG00000125861", "biotype": "protein_coding", "start": 3659248, "end": 3663483, "strand": "-", "slug": "gfra4" }, { "symbol": "ADAM33", "ensemblId": "ENSG00000149451", "biotype": "protein_coding", "start": 3667962, "end": 3682249, "strand": "-", "slug": "adam33" }, { "symbol": "SIGLEC1", "ensemblId": "ENSG00000088827", "biotype": "protein_coding", "start": 3686970, "end": 3712647, "strand": "-", "slug": "siglec1" } ], "truncated": false }, "reports": [ { "slug": "epilepsy-report", "name": "Epilepsie (volledig panel)", "diseases": [ { "mondoId": "MONDO:0005027", "name": "Epilepsie", "genes": 171, "inheritance": null, "description": "Een hersenaandoening die wordt gekenmerkt door episodes van abnormaal verhoogde neuronale ontlading, die leiden tot tijdelijke episodes van sensorische of motorische neurologische stoornissen, of psychische stoornissen. Deze episodes kunnen al dan niet gepaard gaan met bewustzijnsverlies of convulsies.", "management": null, "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/nl/conditions/epilepsy-report" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "brain-atrophy", "name": "Brain degeneration", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/brain-atrophy" }, { "slug": "cataract", "name": "Clouding of the lens of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cataract" }, { "slug": "cerebral-atrophy", "name": "Degeneration of cerebrum", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/cerebral-atrophy" }, { "slug": "delayed-cns-myelination", "name": "Delayed CNS myelination", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/delayed-cns-myelination" }, { "slug": "cardiomyopathy", "name": "Disease of the heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cardiomyopathy" }, { "slug": "elevated-erythrocyte-inosine-triphosphate-concentration", "name": "Elevated erythrocyte inosine triphosphate concentration", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-erythrocyte-inosine-triphosphate-concentration" }, { "slug": "encephalopathy", "name": "Encephalopathy", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/encephalopathy" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "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": "abnormally-high-pitched-voice", "name": "High pitched voice", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/abnormally-high-pitched-voice" }, { "slug": "irritability", "name": "Irritability", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/irritability" }, { "slug": "limb-tremor", "name": "Limb tremor", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/limb-tremor" }, { "slug": "intrauterine-growth-retardation", "name": "Prenatal growth deficiency", "systems": [ "growth-abnormality" ], "url": "https://dantelabs.com/traits/intrauterine-growth-retardation" }, { "slug": "reduced-erythrocyte-inosine-triphosphatase-activity", "name": "Reduced erythrocyte inosine triphosphatase activity", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/reduced-erythrocyte-inosine-triphosphatase-activity" }, { "slug": "status-epilepticus", "name": "Repeated seizures without recovery between them", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/status-epilepticus" }, { "slug": "severe-muscular-hypotonia", "name": "Severely decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/severe-muscular-hypotonia" } ], "related": [ { "slug": "aars1", "symbol": "AARS1", "name": "alanyl-tRNA synthetase 1", "shared": 1, "url": "https://dantelabs.com/nl/genes/aars1" }, { "slug": "abat", "symbol": "ABAT", "name": "4-aminobutyrate aminotransferase", "shared": 1, "url": "https://dantelabs.com/nl/genes/abat" }, { "slug": "actl6b", "symbol": "ACTL6B", "name": "actin like 6B", "shared": 1, "url": "https://dantelabs.com/nl/genes/actl6b" }, { "slug": "adam22", "symbol": "ADAM22", "name": "ADAM metallopeptidase domain 22", "shared": 1, "url": "https://dantelabs.com/nl/genes/adam22" }, { "slug": "aldh7a1", "symbol": "ALDH7A1", "name": "aldehyde dehydrogenase 7 family member A1", "shared": 1, "url": "https://dantelabs.com/nl/genes/aldh7a1" }, { "slug": "alg13", "symbol": "ALG13", "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit", "shared": 1, "url": "https://dantelabs.com/nl/genes/alg13" }, { "slug": "ap3b2", "symbol": "AP3B2", "name": "adaptor related protein complex 3 subunit beta 2", "shared": 1, "url": "https://dantelabs.com/nl/genes/ap3b2" }, { "slug": "arhgef9", "symbol": "ARHGEF9", "name": "Cdc42 guanine nucleotide exchange factor 9", "shared": 1, "url": "https://dantelabs.com/nl/genes/arhgef9" }, { "slug": "arv1", "symbol": "ARV1", "name": "ARV1 fatty acid homeostasis modulator", "shared": 1, "url": "https://dantelabs.com/nl/genes/arv1" }, { "slug": "arx", "symbol": "ARX", "name": "aristaless related homeobox", "shared": 1, "url": "https://dantelabs.com/nl/genes/arx" }, { "slug": "atp1a2", "symbol": "ATP1A2", "name": "ATPase Na+/K+ transporting subunit alpha 2", "shared": 1, "url": "https://dantelabs.com/nl/genes/atp1a2" }, { "slug": "atp1a3", "symbol": "ATP1A3", "name": "ATPase Na+/K+ transporting subunit alpha 3", "shared": 1, "url": "https://dantelabs.com/nl/genes/atp1a3" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }