{ "url": "https://dantelabs.com/de/genes/atp11a", "gene": { "slug": "atp11a", "symbol": "ATP11A", "name": "ATPase phospholipid transporting 11A", "hgnc": "HGNC:13552", "summary": null, "location": "13q34", "locusType": "gene with protein product", "aliases": [ "ATPIH", "ATPIS", "KIAA1021" ], "previousSymbols": [], "ensemblId": "ENSG00000068650", "entrezId": 23250, "omim": [ "605868" ], "uniprot": [ "P98196" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "13", "start": 112690038, "end": 112887168, "strand": "+", "ensemblTranscript": "ENST00000375645.8", "refseqTranscript": "NM_015205.3", "ensemblProtein": "ENSP00000364796.3", "refseqProtein": "NP_056020.2", "exons": [ { "start": 112690038, "end": 112690455 }, { "start": 112785135, "end": 112785257 }, { "start": 112804957, "end": 112805046 }, { "start": 112806213, "end": 112806293 }, { "start": 112810619, "end": 112810726 }, { "start": 112816083, "end": 112816211 }, { "start": 112819304, "end": 112819407 }, { "start": 112819900, "end": 112819950 }, { "start": 112823345, "end": 112823409 }, { "start": 112824344, "end": 112824425 }, { "start": 112825430, "end": 112825580 }, { "start": 112826694, "end": 112826891 }, { "start": 112831375, "end": 112831548 }, { "start": 112832860, "end": 112833023 }, { "start": 112834589, "end": 112834660 }, { "start": 112836178, "end": 112836251 }, { "start": 112842276, "end": 112842379 }, { "start": 112851037, "end": 112851218 }, { "start": 112854279, "end": 112854530 }, { "start": 112855911, "end": 112856085 }, { "start": 112857818, "end": 112857920 }, { "start": 112858145, "end": 112858290 }, { "start": 112859393, "end": 112859452 }, { "start": 112860287, "end": 112860414 }, { "start": 112862440, "end": 112862575 }, { "start": 112871735, "end": 112871800 }, { "start": 112873573, "end": 112873676 }, { "start": 112875776, "end": 112875941 }, { "start": 112878217, "end": 112878303 }, { "start": 112881876, "end": 112887168 } ], "cds": { "start": 112690417, "end": 112878294 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "13", "start": 113344643, "end": 113541482, "strand": "+" }, "neighbourhood": { "release": "116", "start": 112288603, "end": 113288602, "genes": [ { "symbol": "SPACA7", "ensemblId": "ENSG00000153498", "biotype": "protein_coding", "start": 112376309, "end": 112434695, "strand": "+", "slug": "spaca7" }, { "symbol": "TUBGCP3", "ensemblId": "ENSG00000126216", "biotype": "protein_coding", "start": 112485005, "end": 112588205, "strand": "-", "slug": "tubgcp3" }, { "symbol": "MCF2L", "ensemblId": "ENSG00000126217", "biotype": "protein_coding", "start": 112894330, "end": 113100412, "strand": "+", "slug": "mcf2l" }, { "symbol": "F7", "ensemblId": "ENSG00000057593", "biotype": "protein_coding", "start": 113105762, "end": 113120685, "strand": "+", "slug": "f7" }, { "symbol": "F10", "ensemblId": "ENSG00000126218", "biotype": "protein_coding", "start": 113122771, "end": 113149531, "strand": "+", "slug": "f10" }, { "symbol": "PROZ", "ensemblId": "ENSG00000126231", "biotype": "protein_coding", "start": 113158388, "end": 113173625, "strand": "+", "slug": "proz" }, { "symbol": "PCID2", "ensemblId": "ENSG00000126226", "biotype": "protein_coding", "start": 113177117, "end": 113209458, "strand": "-", "slug": "pcid2" }, { "symbol": "CUL4A", "ensemblId": "ENSG00000139842", "biotype": "protein_coding", "start": 113208193, "end": 113267108, "strand": "+", "slug": "cul4a" } ], "truncated": false }, "reports": [ { "slug": "hearing-loss-and-deafness", "name": "Schwerhörigkeit und Gehörlosigkeit", "diseases": [ { "mondoId": "MONDO:0021944", "name": "Auditorische Neuropathie", "genes": 3, "inheritance": null, "description": "Hörverlust, bei dem das Innenohr Schall wahrnimmt, das Signal aber nicht normal an den Hörnerv weitergeleitet wird, einschließlich erblicher Formen, die durch OTOF und andere Gene verursacht werden.", "management": "Die Feststellung der Ursache kann die Wahl zwischen Hörgeräten und Cochlea-Implantaten beeinflussen; OTOF-bedingte Formen sind Gegenstand von Gentherapie-Studien.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0019587", "name": "Autosomal-dominante nicht-syndromale Schwerhörigkeit", "genes": 39, "inheritance": "autosomal-dominant", "description": "Autosomal-dominante Form der nicht-syndromalen Gehörlosigkeit.", "management": null, "evidence": { "gencc": [ "PanelApp Australia" ], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0019497", "name": "Nicht-syndromaler genetischer Hörverlust", "genes": 97, "inheritance": null, "description": "Erblich bedingter Hörverlust ohne weitere medizinische Merkmale, einschließlich der häufigen rezessiven Formen, die durch GJB2, OTOF, SLC26A4, STRC und viele andere Gene verursacht werden, sowie dominante, X-chromosomal gebundene und mitochondriale Formen.", "management": "Die Kenntnis der genetischen Ursache kann Entscheidungen über Hörunterstützung und Cochlea-Implantate, die Eignung für Gentherapie-Studien (zum Beispiel bei OTOF) sowie die genetische Familienberatung leiten.", "evidence": { "gencc": [ "PanelApp Australia" ], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/de/conditions/hearing-loss-and-deafness" }, { "slug": "pelizaeus-merzbacher-and-hypomyelinating-leukodystrophies", "name": "Pelizaeus-Merzbacher-Krankheit und hypomyelinisierende Leukodystrophien", "diseases": [ { "mondoId": "MONDO:0859242", "name": "Hypomyelinisierende Leukodystrophie 24 (ATP11A)", "genes": 1, "inheritance": "autosomal-dominant", "description": "Eine seltene erbliche Form der hypomyelinisierenden Leukodystrophie, bei der sich das Myelin im Gehirn nicht normal bildet, was zu verzögerter Entwicklung und Bewegungsstörungen führt.", "management": null, "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/de/conditions/pelizaeus-merzbacher-and-hypomyelinating-leukodystrophies" }, { "slug": "leukodystrophy", "name": "Andere erbliche Leukodystrophien", "diseases": [ { "mondoId": "MONDO:0019046", "name": "Leukodystrophie (andere und nicht näher bezeichnete Typen)", "genes": 80, "inheritance": null, "description": "Erbliche Erkrankungen, die das Myelin, die weiße Substanz von Gehirn und Rückenmark, schädigen oder dessen normale Bildung verhindern. Je nach beteiligtem Gen folgen die verschiedenen Typen einem autosomal-rezessiven, autosomal-dominanten oder X-chromosomalen Erbgang.", "management": "Die Kenntnis der spezifischen genetischen Ursache kann eine diagnostische Suche beenden, die unterstützende Versorgung und Überwachung leiten, zeigen, ob eine spezifische Behandlung existiert, und Tests bei Verwandten ermöglichen.", "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/de/conditions/leukodystrophy" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-speech-discrimination", "name": "Abnormal speech discrimination", "systems": [ "abnormality-of-the-ear" ], "url": "https://dantelabs.com/traits/abnormal-speech-discrimination" }, { "slug": "abnormal-pulmonary-interstitial-morphology", "name": "Abnormality in area between air sacs in lung", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-pulmonary-interstitial-morphology" }, { "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": "areflexia", "name": "Absent reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/areflexia" }, { "slug": "gastroesophageal-reflux", "name": "Acid reflux", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gastroesophageal-reflux" }, { "slug": "cataract", "name": "Clouding of the lens of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cataract" }, { "slug": "clubbing-of-fingers", "name": "Clubbing of fingers", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/clubbing-of-fingers" }, { "slug": "cough", "name": "Cough", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cough" }, { "slug": "crackles", "name": "Crackles", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/crackles" }, { "slug": "exercise-intolerance", "name": "Decreased ability to exercise", "systems": [ "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/exercise-intolerance" }, { "slug": "decreased-dlco", "name": "Decreased DLCO", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-dlco" }, { "slug": "decreased-motor-nerve-conduction-velocity", "name": "Decreased motor nerve conduction velocity", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-motor-nerve-conduction-velocity" }, { "slug": "cerebral-atrophy", "name": "Degeneration of cerebrum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cerebral-atrophy" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "exertional-dyspnea", "name": "Exertional breathlessness", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/exertional-dyspnea" }, { "slug": "fatigue", "name": "Fatigue", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/fatigue" }, { "slug": "flexion-contracture", "name": "Flexed joint that cannot be straightened", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/flexion-contracture" }, { "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": "ground-glass-opacification", "name": "Ground-glass opacification", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ground-glass-opacification" }, { "slug": "honeycomb-lung", "name": "Honeycomb lung", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/honeycomb-lung" }, { "slug": "leukodystrophy", "name": "Leukodystrophy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/leukodystrophy" }, { "slug": "developmental-regression", "name": "Loss of developmental milestones", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/developmental-regression" }, { "slug": "decreased-total-b-cell-count", "name": "Low B cell count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-total-b-cell-count" }, { "slug": "orthodeoxia", "name": "Orthodeoxia", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/orthodeoxia" }, { "slug": "peripheral-axonal-neuropathy", "name": "Peripheral axonal neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/peripheral-axonal-neuropathy" }, { "slug": "bronchiectasis", "name": "Permanent enlargement of the airways of the lungs", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bronchiectasis" }, { "slug": "acrocyanosis", "name": "Persistent blue color of hands or feet", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/acrocyanosis" }, { "slug": "pulmonary-fibrosis", "name": "Pulmonary scarring", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pulmonary-fibrosis" }, { "slug": "pulmonic-regurgitation", "name": "Pulmonic regurgitation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pulmonic-regurgitation" }, { "slug": "reduced-forced-vital-capacity", "name": "Reduced forced vital capacity", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/reduced-forced-vital-capacity" }, { "slug": "reticular-pattern-on-pulmonary-hrct", "name": "Reticular pattern on pulmonary HRCT", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/reticular-pattern-on-pulmonary-hrct" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "severe-short-stature", "name": "Severe short stature", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/severe-short-stature" }, { "slug": "subpleural-honeycombing", "name": "Subpleural honeycombing", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/subpleural-honeycombing" }, { "slug": "thin-corpus-callosum", "name": "Thin corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/thin-corpus-callosum" }, { "slug": "tongue-fasciculations", "name": "Tongue twitching", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/tongue-fasciculations" }, { "slug": "hypothyroidism", "name": "Underactive thyroid", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypothyroidism" }, { "slug": "usual-interstitial-pneumonia", "name": "Usual interstitial pneumonia", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/usual-interstitial-pneumonia" }, { "slug": "ventriculomegaly", "name": "Ventriculomegaly", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ventriculomegaly" }, { "slug": "widened-subarachnoid-space", "name": "Widened subarachnoid space", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/widened-subarachnoid-space" } ], "related": [ { "slug": "actg1", "symbol": "ACTG1", "name": "actin gamma 1", "shared": 2, "url": "https://dantelabs.com/de/genes/actg1" }, { "slug": "aifm1", "symbol": "AIFM1", "name": "apoptosis inducing factor mitochondria associated 1", "shared": 2, "url": "https://dantelabs.com/de/genes/aifm1" }, { "slug": "atp2b2", "symbol": "ATP2B2", "name": "ATPase plasma membrane Ca2+ transporting 2", "shared": 2, "url": "https://dantelabs.com/de/genes/atp2b2" }, { "slug": "cd164", "symbol": "CD164", "name": "CD164 molecule", "shared": 2, "url": "https://dantelabs.com/de/genes/cd164" }, { "slug": "ceacam16", "symbol": "CEACAM16", "name": "CEA cell adhesion molecule 16, tectorial membrane component", "shared": 2, "url": "https://dantelabs.com/de/genes/ceacam16" }, { "slug": "coch", "symbol": "COCH", "name": "cochlin", "shared": 2, "url": "https://dantelabs.com/de/genes/coch" }, { "slug": "col11a1", "symbol": "COL11A1", "name": "collagen type XI alpha 1 chain", "shared": 2, "url": "https://dantelabs.com/de/genes/col11a1" }, { "slug": "col11a2", "symbol": "COL11A2", "name": "collagen type XI alpha 2 chain", "shared": 2, "url": "https://dantelabs.com/de/genes/col11a2" }, { "slug": "diaph1", "symbol": "DIAPH1", "name": "diaphanous related formin 1", "shared": 2, "url": "https://dantelabs.com/de/genes/diaph1" }, { "slug": "eya4", "symbol": "EYA4", "name": "EYA transcriptional coactivator and phosphatase 4", "shared": 2, "url": "https://dantelabs.com/de/genes/eya4" }, { "slug": "gjb2", "symbol": "GJB2", "name": "gap junction protein beta 2", "shared": 2, "url": "https://dantelabs.com/de/genes/gjb2" }, { "slug": "gjb6", "symbol": "GJB6", "name": "gap junction protein beta 6", "shared": 2, "url": "https://dantelabs.com/de/genes/gjb6" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }