{ "url": "https://dantelabs.com/et/genes/inpp5k", "gene": { "slug": "inpp5k", "symbol": "INPP5K", "name": "inositol polyphosphate-5-phosphatase K", "hgnc": "HGNC:33882", "summary": null, "location": "17p13.3", "locusType": "gene with protein product", "aliases": [ "SKIP" ], "previousSymbols": [], "ensemblId": "ENSG00000132376", "entrezId": 51763, "omim": [ "607875" ], "uniprot": [ "Q9BT40" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "17", "start": 1494577, "end": 1516612, "strand": "-", "ensemblTranscript": "ENST00000421807.7", "refseqTranscript": "NM_016532.4", "ensemblProtein": "ENSP00000413937.2", "refseqProtein": "NP_057616.2", "exons": [ { "start": 1494577, "end": 1495879 }, { "start": 1496060, "end": 1496164 }, { "start": 1496319, "end": 1496402 }, { "start": 1496666, "end": 1496803 }, { "start": 1497936, "end": 1498122 }, { "start": 1506980, "end": 1507089 }, { "start": 1508115, "end": 1508226 }, { "start": 1509178, "end": 1509353 }, { "start": 1509683, "end": 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"strand": "-", "slug": "prpf8" }, { "symbol": "TLCD2", "ensemblId": "ENSG00000185561", "biotype": "protein_coding", "start": 1688598, "end": 1710639, "strand": "-", "slug": "tlcd2" }, { "symbol": "WDR81", "ensemblId": "ENSG00000167716", "biotype": "protein_coding", "start": 1716523, "end": 1738599, "strand": "+", "slug": "wdr81" }, { "symbol": "SERPINF2", "ensemblId": "ENSG00000167711", "biotype": "protein_coding", "start": 1742069, "end": 1755271, "strand": "+", "slug": "serpinf2" }, { "symbol": "SERPINF1", "ensemblId": "ENSG00000132386", "biotype": "protein_coding", "start": 1761958, "end": 1777627, "strand": "+", "slug": "serpinf1" }, { "symbol": "SMYD4", "ensemblId": "ENSG00000186532", "biotype": "protein_coding", "start": 1779485, "end": 1830634, "strand": "-", "slug": "smyd4" }, { "symbol": "RPA1", "ensemblId": "ENSG00000132383", "biotype": "protein_coding", "start": 1829702, "end": 1900082, "strand": "+", "slug": "rpa1" }, { "symbol": "RTN4RL1", "ensemblId": "ENSG00000185924", "biotype": "protein_coding", "start": 1934677, "end": 2025355, "strand": "-", "slug": "rtn4rl1" } ], "truncated": false }, "reports": [ { "slug": "congenital-muscular-dystrophies", "name": "Kaasasündinud lihasdüstroofiad", "diseases": [ { "mondoId": "MONDO:0019950", "name": "Kaasasündinud lihasdüstroofia", "genes": 29, "inheritance": null, "description": "Lihasdüstroofiate rühm, mis avaldub sünnil või imikueas, sealhulgas düstroglükanopaatiad (nt FKRP-, FKTN- ja POMT1/2-seotud vormid).", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/et/conditions/congenital-muscular-dystrophies" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/gait-disturbance" }, { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "cataract", "name": "Clouding of the lens of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cataract" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "elevated-circulating-creatine-kinase-activity", "name": "Elevated blood creatine phosphokinase", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "gowers-sign", "name": "Gowers sign", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/gowers-sign" }, { "slug": "kyphosis", "name": "Hunched back", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/kyphosis" }, { "slug": "increased-adipose-tissue", "name": "Increased adipose tissue", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/increased-adipose-tissue" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "lower-limb-spasticity", "name": "Lower limb spasticity", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lower-limb-spasticity" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "hyperlordosis", "name": "Prominent swayback", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/hyperlordosis" }, { "slug": "proximal-muscle-weakness", "name": "Proximal neurogenic muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/proximal-muscle-weakness" }, { "slug": "spinal-rigidity", "name": "Reduced spine movement", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/spinal-rigidity" }, { "slug": "respiratory-insufficiency", "name": "Respiratory function loss", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/respiratory-insufficiency" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "tip-toe-gait", "name": "Toe walking", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/tip-toe-gait" }, { "slug": "proximal-amyotrophy", "name": "Wasting of muscles near the body", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/proximal-amyotrophy" } ], "related": [ { "slug": "b3galnt2", "symbol": "B3GALNT2", "name": "beta-1,3-N-acetylgalactosaminyltransferase 2", "shared": 1, "url": "https://dantelabs.com/et/genes/b3galnt2" }, { "slug": "b4gat1", "symbol": "B4GAT1", "name": "beta-1,4-glucuronyltransferase 1", "shared": 1, "url": "https://dantelabs.com/et/genes/b4gat1" }, { "slug": "chkb", "symbol": "CHKB", "name": "choline kinase beta", "shared": 1, "url": "https://dantelabs.com/et/genes/chkb" }, { "slug": "col12a1", "symbol": "COL12A1", "name": "collagen type XII alpha 1 chain", "shared": 1, "url": "https://dantelabs.com/et/genes/col12a1" }, { "slug": "col6a1", "symbol": "COL6A1", "name": "collagen type VI alpha 1 chain", "shared": 1, "url": "https://dantelabs.com/et/genes/col6a1" }, { "slug": "col6a2", "symbol": "COL6A2", "name": "collagen type VI alpha 2 chain", "shared": 1, "url": "https://dantelabs.com/et/genes/col6a2" }, { "slug": "col6a3", "symbol": "COL6A3", "name": "collagen type VI alpha 3 chain", "shared": 1, "url": "https://dantelabs.com/et/genes/col6a3" }, { "slug": "crppa", "symbol": "CRPPA", "name": "CDP-L-ribitol pyrophosphorylase A", "shared": 1, "url": "https://dantelabs.com/et/genes/crppa" }, { "slug": "dag1", "symbol": "DAG1", "name": "dystroglycan 1", "shared": 1, "url": "https://dantelabs.com/et/genes/dag1" }, { "slug": "dok7", "symbol": "DOK7", "name": "docking protein 7", "shared": 1, "url": "https://dantelabs.com/et/genes/dok7" }, { "slug": "dpm2", "symbol": "DPM2", "name": "dolichyl-phosphate mannosyltransferase subunit 2, regulatory", "shared": 1, "url": "https://dantelabs.com/et/genes/dpm2" }, { "slug": "dpm3", "symbol": "DPM3", "name": "dolichyl-phosphate mannosyltransferase subunit 3, regulatory", "shared": 1, "url": "https://dantelabs.com/et/genes/dpm3" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }