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56338356, "end": 56360283, "strand": "-", "slug": "stat2" }, { "symbol": "APOF", "ensemblId": "ENSG00000175336", "biotype": "protein_coding", "start": 56360565, "end": 56362862, "strand": "-", "slug": "apof" }, { "symbol": "TIMELESS", "ensemblId": "ENSG00000111602", "biotype": "protein_coding", "start": 56416363, "end": 56449457, "strand": "-", "slug": "timeless" }, { "symbol": "MIP", "ensemblId": "ENSG00000135517", "biotype": "protein_coding", "start": 56449502, "end": 56469166, "strand": "-", "slug": "mip" }, { "symbol": "", "ensemblId": "ENSG00000285528", "biotype": "protein_coding", "start": 56449700, "end": 56488170, "strand": "-" }, { "symbol": "SPRYD4", "ensemblId": "ENSG00000176422", "biotype": "protein_coding", "start": 56468537, "end": 56479708, "strand": "+", "slug": "spryd4" }, { "symbol": "GLS2", "ensemblId": "ENSG00000135423", "biotype": "protein_coding", "start": 56470945, "end": 56488414, "strand": "-", "slug": "gls2" }, { "symbol": "RBMS2", "ensemblId": "ENSG00000076067", "biotype": "protein_coding", "start": 56521807, "end": 56617037, "strand": "+", "slug": "rbms2" } ], "truncated": false }, "reports": [ { "slug": "hereditary-visceral-myopathy-and-intestinal-pseudo-obstruction", "name": "Ärftlig viscerell myopati, CIPO och MMIHS", "diseases": [ { "mondoId": "MONDO:0023961", "name": "Familjär viscerell neuropati", "genes": 1, "inheritance": "autosomal-recessive", "description": "Ärftliga former av intestinal pseudoobstruktion orsakade av avvikande utveckling eller funktion i tarmens nervförsörjning.", "management": "En diagnos hjälper till att förklara dysmotilitet och vägleder kostbehandlingen.", "evidence": { "gencc": [ "G2P", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0017574", "name": "Kronisk intestinal pseudoobstruktion (CIPO)", "genes": 2, "inheritance": null, "description": "Återkommande episoder av tarmobstruktion utan fysisk blockering, inklusive X-bundna former orsakade av FLNA och recessiva former orsakade av ERBB3.", "management": "Att känna till tillståndet undviker upprepade operationer vid misstänkt blockering och fokuserar vården på kost och symtomlindring.", "evidence": { "gencc": [ "G2P", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/sv/conditions/hereditary-visceral-myopathy-and-intestinal-pseudo-obstruction" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abdominal-distention", "name": "Abdominal bloating", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abdominal-distention" }, { "slug": "abdominal-pain", "name": "Abdominal pain", "systems": [ "abnormality-of-the-digestive-system", "constitutional-symptom" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abdominal-pain" }, { "slug": "abnormal-autonomic-nervous-system-physiology", "name": "Abnormal autonomic nervous system physiology", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-autonomic-nervous-system-physiology" }, { "slug": "atresia-of-the-external-auditory-canal", "name": "Absent ear canal", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/atresia-of-the-external-auditory-canal" }, { "slug": "areflexia", "name": "Absent reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/areflexia" }, { "slug": "acute-myeloid-leukemia", "name": "Acute myeloid leukemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system", "neoplasm" ], "url": "https://dantelabs.com/traits/acute-myeloid-leukemia" }, { "slug": "akinesia", "name": "Akinesia", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/akinesia" }, { "slug": "aplasia-of-the-olfactory-bulb", "name": "Aplasia of the olfactory bulb", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/aplasia-of-the-olfactory-bulb" }, { "slug": "arthrogryposis-multiplex-congenita", "name": "Arthrogryposis multiplex congenita", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/arthrogryposis-multiplex-congenita" }, { "slug": "bilious-emesis", "name": "Bilious emesis", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bilious-emesis" }, { "slug": "leukemia", "name": "Blood cancer", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system", "neoplasm" ], "url": "https://dantelabs.com/traits/leukemia" }, { "slug": "colon-perforation", "name": "Colon perforation", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/colon-perforation" }, { "slug": "colonic-diverticula", "name": "Colonic diverticula", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/colonic-diverticula" }, { "slug": "constipation", "name": "Constipation", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/constipation" }, { "slug": "degenerative-vitreoretinopathy", "name": "Degenerative vitreoretinopathy", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/degenerative-vitreoretinopathy" }, { "slug": "delayed-passage-of-meconium", "name": "Delayed passage of meconium", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/delayed-passage-of-meconium" }, { "slug": "diarrhea", "name": "Diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/diarrhea" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "aganglionic-megacolon", "name": "Enlarged colon lacking nerve cells", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/aganglionic-megacolon" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "enterocolitis", "name": "Enterocolitis", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/enterocolitis" }, { "slug": "erythroid-hyperplasia", "name": "Erythroid hyperplasia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/erythroid-hyperplasia" }, { "slug": "failure-to-thrive-in-infancy", "name": "Faltering weight in infancy", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/failure-to-thrive-in-infancy" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "edema", "name": "Fluid retention", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/edema" }, { "slug": "functional-abnormality-of-the-gastrointestinal-tract", "name": "Functional abnormality of the gastrointestinal tract", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/functional-abnormality-of-the-gastrointestinal-tract" }, { "slug": "functional-intestinal-obstruction", "name": "Functional intestinal obstruction", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/functional-intestinal-obstruction" }, { "slug": "growth-delay", "name": "Growth delay", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/growth-delay" }, { "slug": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hearing-impairment" }, { "slug": "polyhydramnios", "name": "High levels of amniotic fluid", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/polyhydramnios" }, { "slug": "ventricular-septal-defect", "name": "Hole in heart wall separating two lower heart chambers", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ventricular-septal-defect" }, { "slug": "hydronephrosis", "name": "Hydronephrosis", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/hydronephrosis" }, { "slug": "impaired-proprioception", "name": "Impaired proprioception", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/impaired-proprioception" }, { "slug": "impaired-vibratory-sensation", "name": "Impaired vibratory sensation", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/impaired-vibratory-sensation" }, { "slug": "gait-ataxia", "name": "Inability to coordinate movements when walking", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/gait-ataxia" }, { "slug": "splenomegaly", "name": "Increased spleen size", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/splenomegaly" }, { "slug": "sepsis", "name": "Infection in blood stream", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sepsis" }, { "slug": "episodic-abdominal-pain", "name": "Intermittent abdominal pain", "systems": [ "abnormality-of-the-digestive-system", "constitutional-symptom" ], "url": "https://dantelabs.com/traits/episodic-abdominal-pain" }, { "slug": "intestinal-malrotation", "name": "Intestinal malrotation", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/intestinal-malrotation" }, { "slug": "intestinal-obstruction", "name": "Intestinal obstruction", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/intestinal-obstruction" }, { "slug": "intestinal-pseudo-obstruction", "name": "Intestinal pseudo-obstruction", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/intestinal-pseudo-obstruction" }, { "slug": "decreased-fetal-movement", "name": "Less than 10 fetal movements in 12 hours", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "url": "https://dantelabs.com/traits/decreased-fetal-movement" }, { "slug": "micrognathia", "name": "Little lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/micrognathia" }, { "slug": "anemia", "name": "Low number of red blood cells or hemoglobin", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/anemia" }, { "slug": "thrombocytopenia", "name": "Low platelet count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/thrombocytopenia" }, { "slug": "skeletal-muscle-atrophy", "name": "Muscle degeneration", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy" }, { "slug": "nausea-and-vomiting", "name": "Nausea and vomiting", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/nausea-and-vomiting" }, { "slug": "peripheral-neuropathy", "name": "Peripheral neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/peripheral-neuropathy" }, { "slug": "refractory-anemia-with-ringed-sideroblasts", "name": "Refractory anemia with ringed sideroblasts", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "neoplasm" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/refractory-anemia-with-ringed-sideroblasts" }, { "slug": "respiratory-failure", "name": "Respiratory failure", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/respiratory-failure" }, { "slug": "high-myopia", "name": "Severe near sightedness", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/high-myopia" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "dilated-cardiomyopathy", "name": "Stretched and thinned heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dilated-cardiomyopathy" }, { "slug": "vomiting", "name": "Vomiting", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/vomiting" }, { "slug": "weight-loss", "name": "Weight loss", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/weight-loss" } ], "related": [ { "slug": "flna", "symbol": "FLNA", "name": "filamin A", "shared": 1, "url": "https://dantelabs.com/sv/genes/flna" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }