{ "url": "https://dantelabs.com/cs/genes/nlrp12", "gene": { "slug": "nlrp12", "symbol": "NLRP12", "name": "NLR family pyrin domain containing 12", "hgnc": "HGNC:22938", "summary": null, "location": "19q13.42", "locusType": "gene with protein product", "aliases": [ "RNO2", "PYPAF7", "Monarch1", "PAN6", "CLR19.3" ], "previousSymbols": [ "NALP12" ], "ensemblId": "ENSG00000142405", "entrezId": 91662, "omim": [ "609648" ], "uniprot": [ "P59046" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "19", "start": 53793741, "end": 53824314, "strand": "-", "ensemblTranscript": "ENST00000324134.11", "refseqTranscript": "NM_144687.4", "ensemblProtein": "ENSP00000319377.6", "refseqProtein": "NP_653288.1", "exons": [ { "start": 53793741, "end": 53794136 }, { "start": 53795859, "end": 53796029 }, { "start": 53798243, "end": 53798413 }, { "start": 53801227, "end": 53801397 }, { "start": 53803952, "end": 53804122 }, { "start": 53805280, "end": 53805450 }, { "start": 53807495, "end": 53807665 }, { "start": 53809587, "end": 53811288 }, { "start": 53814908, "end": 53814988 }, { "start": 53823886, "end": 53824314 } ], "cds": { "start": 53794049, "end": 53824174 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "19", "start": 54296857, "end": 54327648, "strand": "-" }, "neighbourhood": { "release": "116", "start": 53309028, "end": 54309027, "genes": [ { "symbol": "ZNF845", "ensemblId": "ENSG00000213799", "biotype": "protein_coding", "start": 53333733, "end": 53357023, "strand": "+", "slug": "znf845" }, { "symbol": "ZNF525", "ensemblId": "ENSG00000203326", "biotype": "protein_coding", "start": 53365671, "end": 53393980, "strand": "+", "slug": "znf525" }, { "symbol": "ZNF765", "ensemblId": "ENSG00000196417", "biotype": "protein_coding", "start": 53389793, "end": 53430413, "strand": "+", "slug": "znf765" }, { "symbol": "ZNF761", "ensemblId": "ENSG00000160336", "biotype": "protein_coding", "start": 53431948, "end": 53462809, "strand": "+", "slug": "znf761" }, { "symbol": "ZNF813", "ensemblId": "ENSG00000198346", "biotype": "protein_coding", "start": 53467703, "end": 53496255, "strand": "+", "slug": "znf813" }, { "symbol": "ZNF331", "ensemblId": "ENSG00000130844", "biotype": "protein_coding", "start": 53519527, "end": 53580271, "strand": "+", "slug": "znf331" }, { "symbol": "DPRX", "ensemblId": "ENSG00000204595", "biotype": "protein_coding", "start": 53600777, "end": 53637014, "strand": "+", "slug": "dprx" }, { "symbol": "MYADM", "ensemblId": "ENSG00000179820", "biotype": "protein_coding", "start": 53864763, "end": 53878125, "strand": "+", "slug": "myadm" }, { "symbol": "PRKCG", "ensemblId": "ENSG00000126583", "biotype": "protein_coding", "start": 53879190, "end": 53907652, "strand": "+", "slug": "prkcg" }, { "symbol": "CACNG7", "ensemblId": "ENSG00000105605", "biotype": "protein_coding", "start": 53909264, "end": 53943950, "strand": "+", "slug": "cacng7" }, { "symbol": "CACNG8", "ensemblId": "ENSG00000142408", "biotype": "protein_coding", "start": 53962937, "end": 53990215, "strand": "+", "slug": "cacng8" }, { "symbol": "CACNG6", "ensemblId": "ENSG00000130433", "biotype": "protein_coding", "start": 53991605, "end": 54012670, "strand": "+", "slug": "cacng6" }, { "symbol": "VSTM1", "ensemblId": "ENSG00000189068", "biotype": "protein_coding", "start": 54040825, "end": 54063959, "strand": "-", "slug": "vstm1" }, { "symbol": "TARM1", "ensemblId": "ENSG00000248385", "biotype": "protein_coding", "start": 54069895, "end": 54081365, "strand": "-", "slug": "tarm1" }, { "symbol": "OSCAR", "ensemblId": "ENSG00000170909", "biotype": "protein_coding", "start": 54094668, "end": 54102692, "strand": "-", "slug": "oscar" }, { "symbol": "NDUFA3", "ensemblId": "ENSG00000170906", "biotype": "protein_coding", "start": 54102728, "end": 54111522, "strand": "+", "slug": "ndufa3" }, { "symbol": "TFPT", "ensemblId": "ENSG00000105619", "biotype": "protein_coding", "start": 54107015, "end": 54115666, "strand": "-", "slug": "tfpt" }, { "symbol": "PRPF31", "ensemblId": "ENSG00000105618", "biotype": "protein_coding", "start": 54115410, "end": 54131719, "strand": "+", "slug": "prpf31" }, { "symbol": "CNOT3", "ensemblId": "ENSG00000088038", "biotype": "protein_coding", "start": 54137710, "end": 54155708, "strand": "+", "slug": "cnot3" }, { "symbol": "LENG1", "ensemblId": "ENSG00000105617", "biotype": "protein_coding", "start": 54155161, "end": 54159760, "strand": "-", "slug": "leng1" }, { "symbol": "TMC4", "ensemblId": "ENSG00000167608", "biotype": "protein_coding", "start": 54160095, "end": 54173250, "strand": "-", "slug": "tmc4" }, { "symbol": "MBOAT7", "ensemblId": "ENSG00000125505", "biotype": "protein_coding", "start": 54173412, "end": 54189882, "strand": "-", "slug": "mboat7" }, { "symbol": "TSEN34", "ensemblId": "ENSG00000170892", "biotype": "protein_coding", "start": 54188464, "end": 54194538, "strand": "+", "slug": "tsen34" }, { "symbol": "RPS9", "ensemblId": "ENSG00000170889", "biotype": "protein_coding", "start": 54200466, "end": 54249003, "strand": "+", "slug": "rps9" }, { "symbol": "LILRB3", "ensemblId": "ENSG00000204577", "biotype": "protein_coding", "start": 54215940, "end": 54223506, "strand": "-", "slug": "lilrb3" }, { "symbol": "LILRA6", "ensemblId": "ENSG00000244482", "biotype": "protein_coding", "start": 54236590, "end": 54242820, "strand": "-", "slug": "lilra6" }, { "symbol": "LILRB5", "ensemblId": "ENSG00000105609", "biotype": "protein_coding", "start": 54249421, "end": 54257339, "strand": "-", "slug": "lilrb5" }, { "symbol": "LILRB2", "ensemblId": "ENSG00000131042", "biotype": "protein_coding", "start": 54273812, "end": 54281184, "strand": "-", "slug": "lilrb2" }, { "symbol": "LILRA5", "ensemblId": "ENSG00000187116", "biotype": "protein_coding", "start": 54307037, "end": 54313177, "strand": "-", "slug": "lilra5" } ], "truncated": false }, "reports": [ { "slug": "hereditary-periodic-fever-syndromes", "name": "Hereditary Periodic Fever Syndromes", "diseases": [ { "mondoId": "MONDO:0016168", "name": "Cryopyrin-associated periodic syndrome (CAPS)", "genes": 4, "inheritance": "autosomal-dominant", "description": "A spectrum of conditions caused mainly by changes in NLRP3, ranging from cold-induced rashes and fevers to chronic inflammation affecting the skin, joints, hearing and brain.", "management": "Interleukin-1 blocking treatment controls symptoms and helps prevent hearing loss and amyloidosis.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "Laboratory for Molecular Medicine", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/cs/conditions/hereditary-periodic-fever-syndromes" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abdominal-pain", "name": "Abdominal pain", "systems": [ "abnormality-of-the-digestive-system", "constitutional-symptom" ], "url": "https://dantelabs.com/traits/abdominal-pain" }, { "slug": "arthritis", "name": "Arthritis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/arthritis" }, { "slug": "elevated-circulating-c-reactive-protein-concentration", "name": "Elevated circulating C-reactive protein concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-c-reactive-protein-concentration" }, { "slug": "increased-total-leukocyte-count", "name": "Elevated white blood count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-total-leukocyte-count" }, { "slug": "recurrent-fever", "name": "Episodic fever", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-fever" }, { "slug": "erythema-nodosum", "name": "Erythema nodosum", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/erythema-nodosum" }, { "slug": "headache", "name": "Headache", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/headache" }, { "slug": "elevated-erythrocyte-sedimentation-rate", "name": "High ESR", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-erythrocyte-sedimentation-rate" }, { "slug": "urticaria", "name": "Hives", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/urticaria" }, { "slug": "splenomegaly", "name": "Increased spleen size", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/splenomegaly" }, { "slug": "arthralgia", "name": "Joint pain", "systems": [ "constitutional-symptom" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/arthralgia" }, { "slug": "lower-limb-pain", "name": "Lower limb pain", "systems": [ "abnormality-of-the-musculoskeletal-system", "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lower-limb-pain" }, { "slug": "myalgia", "name": "Muscle ache", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/myalgia" }, { "slug": "recurrent-aphthous-stomatitis", "name": "Recurrent canker sores", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/recurrent-aphthous-stomatitis" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "skin-rash", "name": "Skin rash", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/skin-rash" }, { "slug": "pharyngalgia", "name": "Sore throat", "systems": [ "abnormality-of-the-respiratory-system", "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pharyngalgia" }, { "slug": "lymphadenopathy", "name": "Swollen lymph nodes", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lymphadenopathy" } ], "related": [ { "slug": "nlrc4", "symbol": "NLRC4", "name": "NLR family CARD domain containing 4", "shared": 1, "url": "https://dantelabs.com/cs/genes/nlrc4" }, { "slug": "nlrp3", "symbol": "NLRP3", "name": "NLR family pyrin domain containing 3", "shared": 1, "url": "https://dantelabs.com/cs/genes/nlrp3" }, { "slug": "plcg2", "symbol": "PLCG2", "name": "phospholipase C gamma 2", "shared": 1, "url": "https://dantelabs.com/cs/genes/plcg2" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }