{ "url": "https://dantelabs.com/da/genes/ca8", "gene": { "slug": "ca8", "symbol": "CA8", "name": "carbonic anhydrase 8 (inactive)", "hgnc": "HGNC:1382", "summary": null, "location": "8q12.1", "locusType": "gene with protein product", "aliases": [ "CARP", "CA-RP", "CA-VIII" ], "previousSymbols": [ "CALS" ], "ensemblId": "ENSG00000178538", "entrezId": 767, "omim": [ "114815" ], "uniprot": [ "P35219" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "8", "start": 60185412, "end": 60281400, "strand": "-", "ensemblTranscript": "ENST00000317995.5", "refseqTranscript": "NM_004056.6", "ensemblProtein": "ENSP00000314407.4", "refseqProtein": "NP_004047.3", "exons": [ { "start": 60185412, "end": 60189985 }, { "start": 60208750, "end": 60208919 }, { "start": 60222649, "end": 60222761 }, { "start": 60224537, "end": 60224585 }, { "start": 60226873, "end": 60226935 }, { "start": 60232284, "end": 60232379 }, { "start": 60265925, "end": 60266049 }, { "start": 60279689, "end": 60279880 }, { "start": 60281048, "end": 60281400 } ], "cds": { "start": 60208785, "end": 60281147 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "8", "start": 61099906, "end": 61193971, "strand": "-" }, "neighbourhood": { "release": "116", "start": 59733406, "end": 60733405, "genes": [ { "symbol": "RAB2A", "ensemblId": "ENSG00000104388", "biotype": "protein_coding", "start": 60516890, "end": 60624280, "strand": "+", "slug": "rab2a" }, { "symbol": "CHD7", "ensemblId": "ENSG00000171316", "biotype": "protein_coding", "start": 60678715, "end": 60868031, "strand": "+", "slug": "chd7" } ], "truncated": false }, "reports": [ { "slug": "autosomal-recessive-cerebellar-ataxias", "name": "Autosomale recessive cerebellare ataksier (herunder CANVAS og AVED)", "diseases": [ { "mondoId": "MONDO:0015244", "name": "Autosomal recessiv cerebellar ataksi", "genes": 57, "inheritance": "autosomal-recessive", "description": "En gruppe recessivt arvede ataksier, forårsaget af biallelle varianter i gener som RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 og SYNE1.", "management": "Ataksi med E-vitaminmangel (TTPA) kan behandles med E-vitamintilskud; andre former håndteres med fysioterapi og symptombehandling, og slægtninge kan tilbydes bærertest.", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/da/conditions/autosomal-recessive-cerebellar-ataxias" }, { "slug": "inherited-neurodegenerative-disorders-selected-genes", "name": "Arvelige neurodegenerative sygdomme", "diseases": [ { "mondoId": "MONDO:0024237", "name": "KIF5A-relateret neurodegenerativ sygdom", "genes": 372, "inheritance": "autosomal-dominant", "description": "Forårsaget af ændringer i den ene kopi af KIF5A, som koder for et motorprotein med en hale, der binder last. Forskellige typer ændringer fører til forskellige sygdomme: hereditær spastisk paraplegi type 10, en aksonal form for Charcot-Marie-Tooths sygdom og amyotrofisk lateral sklerose (ALS).", "management": "Behandlingen er symptomatisk og afhænger af sygdomsbilledet og omfatter fysioterapi, medicin mod spasticitet og tværfaglig ALS-behandling. Hvert barn af en berørt person har 1 ud af 2 chance for at arve ændringen; genetisk rådgivning hjælper familier med at forstå dette.", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/da/conditions/inherited-neurodegenerative-disorders-selected-genes" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/gait-disturbance" }, { "slug": "abnormality-of-movement", "name": "Abnormality of movement", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-movement" }, { "slug": "abnormality-of-the-eye", "name": "Abnormality of the eye", "systems": [], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-eye" }, { "slug": "abnormality-of-vision", "name": "Abnormality of vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-vision" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "cerebellar-ataxia-associated-with-quadrupedal-gait", "name": "Cerebellar ataxia associated with quadrupedal gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cerebellar-ataxia-associated-with-quadrupedal-gait" }, { "slug": "cerebral-palsy", "name": "Cerebral palsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebral-palsy" }, { "slug": "cataract", "name": "Clouding of the lens of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cataract" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "hyperreflexia", "name": "Increased reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hyperreflexia" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "mild-intellectual-disability", "name": "Intellectual disability, mild", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/mild-intellectual-disability" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "skeletal-muscle-atrophy", "name": "Muscle degeneration", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "slurred-speech", "name": "Slurred speech", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/slurred-speech" }, { "slug": "tremor", "name": "Tremor", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/tremor" } ], "related": [ { "slug": "ahi1", "symbol": "AHI1", "name": "Abelson helper integration site 1", "shared": 2, "url": "https://dantelabs.com/da/genes/ahi1" }, { "slug": "ano10", "symbol": "ANO10", "name": "anoctamin 10", "shared": 2, "url": "https://dantelabs.com/da/genes/ano10" }, { "slug": "atcay", "symbol": "ATCAY", "name": "ATCAY kinesin light chain interacting caytaxin", "shared": 2, "url": "https://dantelabs.com/da/genes/atcay" }, { "slug": "atg7", "symbol": "ATG7", "name": "autophagy related 7", "shared": 2, "url": "https://dantelabs.com/da/genes/atg7" }, { "slug": "atp8a2", "symbol": "ATP8A2", "name": "ATPase phospholipid transporting 8A2", "shared": 2, "url": "https://dantelabs.com/da/genes/atp8a2" }, { "slug": "cc2d2a", "symbol": "CC2D2A", "name": "coiled-coil and C2 domain containing 2A", "shared": 2, "url": "https://dantelabs.com/da/genes/cc2d2a" }, { "slug": "cep290", "symbol": "CEP290", "name": "centrosomal protein 290", "shared": 2, "url": "https://dantelabs.com/da/genes/cep290" }, { "slug": "cep41", "symbol": "CEP41", "name": "centrosomal protein 41", "shared": 2, "url": "https://dantelabs.com/da/genes/cep41" }, { "slug": "coa7", "symbol": "COA7", "name": "cytochrome c oxidase assembly factor 7", "shared": 2, "url": "https://dantelabs.com/da/genes/coa7" }, { "slug": "coq8a", "symbol": "COQ8A", "name": "coenzyme Q8A", "shared": 2, "url": "https://dantelabs.com/da/genes/coq8a" }, { "slug": "cspp1", "symbol": "CSPP1", "name": "centrosome and spindle pole associated protein 1", "shared": 2, "url": "https://dantelabs.com/da/genes/cspp1" }, { "slug": "ctdp1", "symbol": "CTDP1", "name": "CTD phosphatase 1", "shared": 2, "url": "https://dantelabs.com/da/genes/ctdp1" } ], "sources": { "bundleId": "2026.10.18-8b139e39", "panel": "2026-10-18", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }