{ "url": "https://dantelabs.com/nl/genes/fech", "gene": { "slug": "fech", "symbol": "FECH", "name": "ferrochelatase", "hgnc": "HGNC:3647", "summary": null, "location": "18q21.31", "locusType": "gene with protein product", "aliases": [], "previousSymbols": [], "ensemblId": "ENSG00000066926", "entrezId": 2235, "omim": [ "612386" ], "uniprot": [ "P22830" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "18", "start": 57544377, "end": 57586702, "strand": "-", "ensemblTranscript": "ENST00000262093.11", "refseqTranscript": "NM_000140.5", "ensemblProtein": "ENSP00000262093.6", "refseqProtein": "NP_000131.2", "exons": [ { "start": 57544377, "end": 57550846 }, { "start": 57551315, "end": 57551374 }, { "start": 57554260, "end": 57554424 }, { "start": 57554845, "end": 57554952 }, { "start": 57559145, "end": 57559243 }, { "start": 57562874, "end": 57562980 }, { "start": 57566447, "end": 57566581 }, { "start": 57571392, "end": 57571540 }, { "start": 57573246, "end": 57573365 }, { "start": 57580073, "end": 57580199 }, { "start": 57586554, "end": 57586702 } ], "cds": { "start": 57550712, "end": 57586620 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "18", "start": 55215515, "end": 55254004, "strand": "-" }, "neighbourhood": { "release": "116", "start": 57065540, "end": 58065539, "genes": [ { "symbol": "BOD1L2", "ensemblId": "ENSG00000228075", "biotype": "protein_coding", "start": 57147087, "end": 57150410, "strand": "+", "slug": "bod1l2" }, { "symbol": "ST8SIA3", "ensemblId": "ENSG00000177511", "biotype": "protein_coding", "start": 57352430, "end": 57371731, "strand": "+", "slug": "st8sia3" }, { "symbol": "ONECUT2", "ensemblId": "ENSG00000119547", "biotype": "protein_coding", "start": 57435374, "end": 57491298, "strand": "+", "slug": "onecut2" }, { "symbol": "NARS1", "ensemblId": "ENSG00000134440", "biotype": "protein_coding", "start": 57589520, "end": 57622213, "strand": "-", "slug": "nars1" }, { "symbol": "ATP8B1", "ensemblId": "ENSG00000081923", "biotype": "protein_coding", "start": 57646426, "end": 57803560, "strand": "-", "slug": "atp8b1" }, { "symbol": "NEDD4L", "ensemblId": "ENSG00000049759", "biotype": "protein_coding", "start": 58043980, "end": 58401540, "strand": "+", "slug": "nedd4l" } ], "truncated": false }, "reports": [ { "slug": "hepatic-porphyria-disorders", "name": "Hepatische porfyriestoornissen", "diseases": [ { "mondoId": "MONDO:0002520", "name": "Hepatische porfyrie", "genes": 8, "inheritance": null, "description": "Een groep stofwisselingsziekten die worden veroorzaakt door een tekort aan een van meerdere leverenzymen in de biosynthetische route van heem. Ze worden gekenmerkt door ophoping en verhoogde uitscheiding van porfyrines of hun voorlopers. Klinische kenmerken zijn neurologische klachten (acute intermitterende porfyrie), huidletsels door fotosensibiliteit (porphyria cutanea tarda), of beide (erfelijke coproporfyrie). Hepatische porfyrieën kunnen erfelijk zijn of verworven als gevolg van toxiciteit voor het leverweefsel.", "management": null, "evidence": { "gencc": [ "ClinGen", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "Laboratory for Molecular Medicine", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/nl/conditions/hepatic-porphyria-disorders" }, { "slug": "porphyria", "name": "Porfyrie", "diseases": [ { "mondoId": "MONDO:0037939", "name": "Porfyrie", "genes": 9, "inheritance": null, "description": "Porfyrie is een groep ziekten waarbij stoffen die porfyrines worden genoemd zich ophopen, met nadelige gevolgen voor de huid of het zenuwstelsel. De meeste vormen zijn erfelijk, maar porphyria cutanea tarda kan ook worden veroorzaakt door een verhoogde ijzerconcentratie in de lever, hepatitis C, alcohol of hiv/aids.", "management": "Preventie van aanvallen door triggers te vermijden, intraveneuze dextrose of hemine tijdens acute aanvallen, RNA-interferentietherapie (givosiran), erfelijkheidsadvies", "evidence": { "gencc": [ "ClinGen", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "Laboratory for Molecular Medicine", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/nl/conditions/porphyria" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-circulating-porphyrin-concentration", "name": "Abnormal circulating porphyrin concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-circulating-porphyrin-concentration" }, { "slug": "decreased-liver-function", "name": "Decreased liver function", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/decreased-liver-function" }, { "slug": "eczematoid-dermatitis", "name": "Eczema", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/eczematoid-dermatitis" }, { "slug": "edema", "name": "Fluid retention", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/edema" }, { "slug": "cholelithiasis", "name": "Gallstones", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cholelithiasis" }, { "slug": "hemolytic-anemia", "name": "Hemolytic anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/hemolytic-anemia" }, { "slug": "hypertriglyceridemia", "name": "Increased plasma triglycerides", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/hypertriglyceridemia" }, { "slug": "pruritus", "name": "Itching", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/pruritus" }, { "slug": "hepatic-failure", "name": "Liver failure", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/hepatic-failure" }, { "slug": "low-tissue-ferrochelatase-activity", "name": "Low tissue ferrochelatase activity", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/low-tissue-ferrochelatase-activity" }, { "slug": "microcytic-anemia", "name": "Microcytic anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/microcytic-anemia" }, { "slug": "cutaneous-photosensitivity", "name": "Photosensitive skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/cutaneous-photosensitivity" }, { "slug": "erythema", "name": "Redness of skin or mucous membrane", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/erythema" }, { "slug": "cirrhosis", "name": "Scar tissue replaces healthy tissue in the liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cirrhosis" } ], "related": [ { "slug": "alad", "symbol": "ALAD", "name": "aminolevulinate dehydratase", "shared": 2, "url": "https://dantelabs.com/nl/genes/alad" }, { "slug": "alas2", "symbol": "ALAS2", "name": "5'-aminolevulinate synthase 2", "shared": 2, "url": "https://dantelabs.com/nl/genes/alas2" }, { "slug": "clpx", "symbol": "CLPX", "name": "caseinolytic mitochondrial matrix peptidase chaperone subunit X", "shared": 2, "url": "https://dantelabs.com/nl/genes/clpx" }, { "slug": "cpox", "symbol": "CPOX", "name": "coproporphyrinogen oxidase", "shared": 2, "url": "https://dantelabs.com/nl/genes/cpox" }, { "slug": "hmbs", "symbol": "HMBS", "name": "hydroxymethylbilane synthase", "shared": 2, "url": "https://dantelabs.com/nl/genes/hmbs" }, { "slug": "ppox", "symbol": "PPOX", "name": "protoporphyrinogen oxidase", "shared": 2, "url": "https://dantelabs.com/nl/genes/ppox" }, { "slug": "urod", "symbol": "UROD", "name": "uroporphyrinogen decarboxylase", "shared": 2, "url": "https://dantelabs.com/nl/genes/urod" }, { "slug": "uros", "symbol": "UROS", "name": "uroporphyrinogen III synthase", "shared": 1, "url": "https://dantelabs.com/nl/genes/uros" } ], "sources": { "bundleId": "2026.10.18-e609d43e", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }