{ "url": "https://dantelabs.com/it/genes/rnpc3", "gene": { "slug": "rnpc3", "symbol": "RNPC3", "name": "RNA binding region (RNP1, RRM) containing 3", "hgnc": "HGNC:18666", "summary": null, "location": "1p21.1", "locusType": "gene with protein product", "aliases": [ "KIAA1839", "FLJ20008", "RBM40", "SNRNP65" ], "previousSymbols": [], "ensemblId": "ENSG00000185946", "entrezId": 55599, "omim": [ "618016" ], "uniprot": [ "Q96LT9" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "1", "start": 103525699, "end": 103555239, "strand": "+", "ensemblTranscript": "ENST00000423855.7", "refseqTranscript": "NM_017619.4", "ensemblProtein": "ENSP00000391432.1", "refseqProtein": "NP_060089.1", "exons": [ { "start": 103525699, "end": 103526262 }, { "start": 103527695, "end": 103527742 }, { "start": 103533739, "end": 103533857 }, { "start": 103534774, "end": 103534857 }, { "start": 103535330, "end": 103535441 }, { "start": 103536126, "end": 103536194 }, { "start": 103537342, "end": 103537484 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Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/it/conditions/hypogonadotropic-hypogonadism" }, { "slug": "non-acquired-combined-pituitary-hormone-deficiency", "name": "Deficit combinato di ormoni ipofisari non acquisito", "diseases": [ { "mondoId": "MONDO:0013099", "name": "Deficit combinato di ormoni ipofisari, forma genetica", "genes": 13, "inheritance": null, "description": "Deficit ereditario di più ormoni ipofisari, inclusi PROP1, POU1F1, HESX1 e altre cause correlate.", "management": null, "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/it/conditions/non-acquired-combined-pituitary-hormone-deficiency" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abdominal-obesity", "name": "Abdominal obesity", "systems": [ "growth-abnormality" ], "url": "https://dantelabs.com/traits/abdominal-obesity" }, { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "decreased-response-to-growth-hormone-stimulation-test", "name": "Decreased response to growth hormone stimulation test", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-response-to-growth-hormone-stimulation-test" }, { "slug": "delayed-skeletal-maturation", "name": "Delayed bone maturation", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/delayed-skeletal-maturation" }, { "slug": "frontal-bossing", "name": "Frontal bossing", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/frontal-bossing" }, { "slug": "postnatal-growth-retardation", "name": "Growth delay as children", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/postnatal-growth-retardation" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "truncal-obesity", "name": "Truncal obesity", "systems": [ "growth-abnormality" ], "url": "https://dantelabs.com/traits/truncal-obesity" }, { "slug": "anterior-pituitary-hypoplasia", "name": "Underdeveloped pituitary gland", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/anterior-pituitary-hypoplasia" } ], "related": [ { "slug": "foxa2", "symbol": "FOXA2", "name": "forkhead box A2", "shared": 2, "url": "https://dantelabs.com/it/genes/foxa2" }, { "slug": "gh1", "symbol": "GH1", "name": "growth hormone 1", "shared": 2, "url": "https://dantelabs.com/it/genes/gh1" }, { "slug": "ghrhr", "symbol": "GHRHR", "name": "growth hormone releasing hormone receptor", "shared": 2, "url": "https://dantelabs.com/it/genes/ghrhr" }, { "slug": "hesx1", "symbol": "HESX1", "name": "HESX homeobox 1", "shared": 2, "url": "https://dantelabs.com/it/genes/hesx1" }, { "slug": "lhx3", "symbol": "LHX3", "name": "LIM homeobox 3", "shared": 2, "url": "https://dantelabs.com/it/genes/lhx3" }, { "slug": "lhx4", "symbol": "LHX4", "name": "LIM homeobox 4", "shared": 2, "url": "https://dantelabs.com/it/genes/lhx4" }, { "slug": "otx2", "symbol": "OTX2", "name": "orthodenticle homeobox 2", "shared": 2, "url": "https://dantelabs.com/it/genes/otx2" }, { "slug": "pou1f1", "symbol": "POU1F1", "name": "POU class 1 homeobox 1", "shared": 2, "url": "https://dantelabs.com/it/genes/pou1f1" }, { "slug": "prop1", "symbol": "PROP1", "name": "PROP paired-like homeobox 1", "shared": 2, "url": "https://dantelabs.com/it/genes/prop1" }, { "slug": "robo1", "symbol": "ROBO1", "name": "roundabout guidance receptor 1", "shared": 2, "url": "https://dantelabs.com/it/genes/robo1" }, { "slug": "sox3", "symbol": "SOX3", "name": "SRY-box transcription factor 3", "shared": 2, "url": "https://dantelabs.com/it/genes/sox3" }, { "slug": "tbx19", "symbol": "TBX19", "name": "T-box transcription factor 19", "shared": 2, "url": "https://dantelabs.com/it/genes/tbx19" } ], "sources": { "bundleId": "2026.10.18-e609d43e", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }