{ "url": "https://dantelabs.com/sv/genes/yif1b", "gene": { "slug": "yif1b", "symbol": "YIF1B", "name": "Yip1 interacting factor homolog B, membrane trafficking protein", "hgnc": "HGNC:30511", "summary": null, "location": "19q13.2", "locusType": "gene with protein product", "aliases": [ "FinGER8" ], "previousSymbols": [], "ensemblId": "ENSG00000167645", "entrezId": 90522, "omim": [ "619109" ], "uniprot": [ "Q5BJH7" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "19", "start": 38303558, "end": 38315947, "strand": "-", "ensemblTranscript": "ENST00000339413.11", "refseqTranscript": "NM_001039672.3", "ensemblProtein": "ENSP00000343435.5", "refseqProtein": "NP_001034761.1", "exons": [ { "start": 38303558, "end": 38305507 }, { "start": 38307428, "end": 38307521 }, { "start": 38307597, "end": 38307752 }, { "start": 38308792, "end": 38308849 }, { "start": 38308979, "end": 38309057 }, { "start": 38309224, "end": 38309328 }, { "start": 38309405, "end": 38309643 }, { "start": 38315860, "end": 38315947 } ], "cds": { "start": 38305352, "end": 38315917 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "19", "start": 38795753, "end": 38807913, "strand": "-" }, "neighbourhood": { "release": "116", "start": 37809753, "end": 38809752, "genes": [ { "symbol": "ZNF573", "ensemblId": "ENSG00000189144", "biotype": "protein_coding", "start": 37735833, "end": 37817300, "strand": "-", "slug": "znf573" }, { "symbol": "WDR87", "ensemblId": "ENSG00000171804", "biotype": "protein_coding", "start": 37884823, "end": 37906677, "strand": "-", "slug": "wdr87" }, { "symbol": "SIPA1L3", "ensemblId": "ENSG00000105738", "biotype": "protein_coding", "start": 37907200, "end": 38208369, "strand": "+", "slug": "sipa1l3" }, { "symbol": "DPF1", "ensemblId": "ENSG00000011332", "biotype": "protein_coding", "start": 38211006, "end": 38229729, "strand": "-", "slug": "dpf1" }, { "symbol": "SPINT2", "ensemblId": "ENSG00000167642", "biotype": "protein_coding", "start": 38244035, "end": 38292615, "strand": "+", "slug": "spint2" }, { "symbol": "PPP1R14A", "ensemblId": "ENSG00000167641", "biotype": "protein_coding", "start": 38250856, "end": 38256615, "strand": "-", "slug": "ppp1r14a" }, { "symbol": "", "ensemblId": "ENSG00000267748", "biotype": "protein_coding", "start": 38289151, "end": 38304910, "strand": "+" }, { "symbol": "C19orf33", "ensemblId": "ENSG00000167644", "biotype": "protein_coding", "start": 38304158, "end": 38305011, "strand": "+", "slug": "c19orf33" }, { "symbol": "KCNK6", "ensemblId": "ENSG00000099337", "biotype": "protein_coding", "start": 38319813, "end": 38333553, "strand": "+", "slug": "kcnk6" }, { "symbol": "CATSPERG", "ensemblId": "ENSG00000099338", "biotype": "protein_coding", "start": 38335775, "end": 38370943, "strand": "+", "slug": "catsperg" }, { "symbol": "PSMD8", "ensemblId": "ENSG00000099341", "biotype": "protein_coding", "start": 38374563, "end": 38383850, "strand": "+", "slug": "psmd8" }, { "symbol": "GGN", "ensemblId": "ENSG00000179168", "biotype": "protein_coding", "start": 38384267, "end": 38388274, "strand": "-", "slug": "ggn" }, { "symbol": "SPRED3", "ensemblId": "ENSG00000188766", "biotype": "protein_coding", "start": 38388421, "end": 38399588, "strand": "+", "slug": "spred3" }, { "symbol": "TSLIG3C", "ensemblId": "ENSG00000130244", "biotype": "protein_coding", "start": 38403093, "end": 38409088, "strand": "+", "slug": "tslig3c" }, { "symbol": "RASGRP4", "ensemblId": "ENSG00000171777", "biotype": "protein_coding", "start": 38409051, "end": 38426305, "strand": "-", "slug": "rasgrp4" }, { "symbol": "RYR1", "ensemblId": "ENSG00000196218", "biotype": "protein_coding", "start": 38433691, "end": 38595273, "strand": "+", "slug": "ryr1" }, { "symbol": "MAP4K1", "ensemblId": "ENSG00000104814", "biotype": "protein_coding", "start": 38587641, "end": 38619161, "strand": "-", "slug": "map4k1" }, { "symbol": "EIF3K", "ensemblId": "ENSG00000178982", "biotype": "protein_coding", "start": 38619055, "end": 38636959, "strand": "+", "slug": "eif3k" }, { "symbol": "ACTN4", "ensemblId": "ENSG00000130402", "biotype": "protein_coding", "start": 38647515, "end": 38731589, "strand": "+", "slug": "actn4" }, { "symbol": "CAPN12", "ensemblId": "ENSG00000182472", "biotype": "protein_coding", "start": 38730187, "end": 38769904, "strand": "-", "slug": "capn12" }, { "symbol": "LGALS7", "ensemblId": "ENSG00000205076", "biotype": "protein_coding", "start": 38770968, "end": 38773542, "strand": "-", "slug": "lgals7" }, { "symbol": "LGALS7B", "ensemblId": "ENSG00000178934", "biotype": "protein_coding", "start": 38789191, "end": 38791754, "strand": "+", "slug": "lgals7b" }, { "symbol": "LGALS4", "ensemblId": "ENSG00000171747", "biotype": "protein_coding", "start": 38801671, "end": 38813070, "strand": "-", "slug": "lgals4" } ], "truncated": false }, "reports": [ { "slug": "kaya-barakat-masson-syndrome", "name": "Kaya-Barakat-Masson-syndrom", "diseases": [ { "mondoId": "MONDO:0030878", "name": "Kaya-Barakat-Masson-syndrom", "genes": 1, "inheritance": "autosomal-recessive", "description": "Kaya-Barakat-Masson-syndrom orsakas av förändringar i båda kopiorna av YIF1B, en gen som hjälper till att transportera proteiner inne i cellerna, mellan det endoplasmatiska retiklet och Golgiapparaten.", "management": "Vården är stödjande, med behandling av epileptiska anfall och rörelsestörningar, matningsterapi samt utvecklings- och pedagogiskt stöd. Genetisk rådgivning rekommenderas; föräldrar är vanligtvis bärare, och varje framtida barn har en chans på 1 av 4 att drabbas, och bärarundersökning kan erbjudas till släktingar.", "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/sv/conditions/kaya-barakat-masson-syndrome" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "cerebral-visual-impairment", "name": "Cerebral visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cerebral-visual-impairment" }, { "slug": "cns-hypomyelination", "name": "CNS hypomyelination", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cns-hypomyelination" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "slug": "cerebral-atrophy", "name": "Degeneration of cerebrum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cerebral-atrophy" }, { "slug": "delayed-ability-to-roll-over", "name": "Delayed ability to roll over", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/delayed-ability-to-roll-over" }, { "slug": "delayed-speech-and-language-development", "name": "Delayed speech and language development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/delayed-speech-and-language-development" }, { "slug": "dyskinesia", "name": "Disorder of involuntary muscle movements", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dyskinesia" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "feeding-difficulties-in-infancy", "name": "Feeding difficulties in infancy", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/generalized-hypotonia" }, { "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": "spasticity", "name": "Involuntary muscle stiffness, contraction, or spasm", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/spasticity" }, { "slug": "irritability", "name": "Irritability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/irritability" }, { "slug": "limb-dystonia", "name": "Limb dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/limb-dystonia" }, { "slug": "axial-hypotonia", "name": "Low muscle tone in trunk", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/axial-hypotonia" }, { "slug": "intrauterine-growth-retardation", "name": "Prenatal growth deficiency", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intrauterine-growth-retardation" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "spastic-tetraplegia", "name": "Spastic tetraplegia", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/spastic-tetraplegia" }, { "slug": "hypoplasia-of-the-corpus-callosum", "name": "Underdevelopment of part of brain called corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum" } ], "related": [], "sources": { "bundleId": "2026.10.19-9814e911", "panel": "2026-10-19", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }