{ "url": "https://dantelabs.com/tr/genes/pigb", "gene": { "slug": "pigb", "symbol": "PIGB", "name": "phosphatidylinositol glycan anchor biosynthesis class B", "hgnc": "HGNC:8959", "summary": null, "location": "15q21.3", "locusType": "gene with protein product", "aliases": [ "PIG-B", "GPI-MT-III" ], "previousSymbols": [], "ensemblId": "ENSG00000069943", "entrezId": 9488, "omim": [ "604122" ], "uniprot": [ "Q92521" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "15", "start": 55319222, "end": 55355648, "strand": "+", "ensemblTranscript": "ENST00000164305.10", "refseqTranscript": "NM_004855.5", "ensemblProtein": "ENSP00000164305.5", "refseqProtein": "NP_004846.4", "exons": [ { "start": 55319222, "end": 55319413 }, { "start": 55320275, "end": 55320410 }, { "start": 55321273, "end": 55321390 }, { "start": 55327531, "end": 55327635 }, { "start": 55329724, "end": 55329854 }, { "start": 55333867, "end": 55334007 }, { "start": 55339267, "end": 55339318 }, { "start": 55340612, "end": 55340823 }, { "start": 55341738, "end": 55341802 }, { "start": 55350699, "end": 55350912 }, { "start": 55354798, "end": 55354978 }, { "start": 55355286, "end": 55355648 } ], "cds": { "start": 55319251, "end": 55355432 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "15", "start": 55611158, "end": 55647846, "strand": "+" }, "neighbourhood": { "release": "116", "start": 54837435, "end": 55837434, "genes": [ { "symbol": "RSL24D1", "ensemblId": "ENSG00000137876", "biotype": "protein_coding", "start": 55180797, "end": 55197076, "strand": "-", "slug": "rsl24d1" }, { "symbol": "RAB27A", "ensemblId": "ENSG00000069974", "biotype": "protein_coding", "start": 55202966, "end": 55319174, "strand": "-", "slug": "rab27a" }, { "symbol": "PIGBOS1", "ensemblId": "ENSG00000225973", "biotype": "protein_coding", "start": 55317086, "end": 55319419, "strand": "-", "slug": "pigbos1" }, { "symbol": "CCPG1", "ensemblId": "ENSG00000260916", "biotype": "protein_coding", "start": 55319687, "end": 55408510, "strand": "-", "slug": "ccpg1" }, { "symbol": "PIERCE2", "ensemblId": "ENSG00000261652", "biotype": "protein_coding", "start": 55408480, "end": 55418798, "strand": "+", "slug": "pierce2" }, { "symbol": "DNAAF4", "ensemblId": "ENSG00000256061", "biotype": "protein_coding", "start": 55410525, "end": 55508234, "strand": "-", "slug": "dnaaf4" }, { "symbol": "PYGO1", "ensemblId": "ENSG00000171016", "biotype": "protein_coding", "start": 55538884, "end": 55588994, "strand": "-", "slug": "pygo1" }, { "symbol": "PRTG", "ensemblId": "ENSG00000166450", "biotype": "protein_coding", "start": 55611544, "end": 55743203, "strand": "-", "slug": "prtg" }, { "symbol": "NEDD4", "ensemblId": "ENSG00000069869", "biotype": "protein_coding", "start": 55826917, "end": 55993660, "strand": "-", "slug": "nedd4" } ], "truncated": false }, "reports": [ { "slug": "gpi-anchor-biosynthesis-defects", "name": "GPI Ankraj Biyosentez Bozuklukları", "diseases": [ { "mondoId": "MONDO:0024321", "name": "GPI Ankraj Biyosentezi Bozuklukları", "genes": 20, "inheritance": null, "description": "GPI ankrajını üretmek ve bağlamak için gereken PIG, PGAP ve ilgili genlerdeki varyantların neden olduğu, tipik olarak gelişimsel gecikme, düşük kas tonusu ve epilepsiyle seyreden kalıtsal durumlar grubu.", "management": null, "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/tr/conditions/gpi-anchor-biosynthesis-defects" }, { "slug": "epilepsy-report", "name": "Epilepsi (Tam Panel)", "diseases": [ { "mondoId": "MONDO:0005027", "name": "Epilepsi", "genes": 171, "inheritance": null, "description": "Nöronal deşarjın anormal şekilde artmasıyla ortaya çıkan, geçici duyusal veya motor nörolojik işlev bozukluğu ya da psişik işlev bozukluğuyla seyreden bir beyin hastalığıdır. Bu nöbetler bilinç kaybı veya konvülsiyonlarla birlikte olabilir ya da olmayabilir.", "management": null, "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/tr/conditions/epilepsy-report" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-cerebral-white-matter-morphology", "name": "Abnormal cerebral white matter morphology", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/abnormal-cerebral-white-matter-morphology" }, { "slug": "abnormal-visual-fixation", "name": "Abnormal visual fixation", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/abnormal-visual-fixation" }, { "slug": "abnormal-pinna-morphology", "name": "Abnormally shaped ears", "systems": [ "abnormality-of-the-ear" ], "url": "https://dantelabs.com/traits/abnormal-pinna-morphology" }, { "slug": "microphthalmia", "name": "Abnormally small eyeball", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/microphthalmia" }, { "slug": "areflexia", "name": "Absent reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/areflexia" }, { "slug": "acetabular-dysplasia", "name": "Acetabular dysplasia", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/acetabular-dysplasia" }, { "slug": "mandibular-prognathia", "name": "Big lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/mandibular-prognathia" }, { "slug": "broad-forehead", "name": "Broad forehead", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/broad-forehead" }, { "slug": "brachycephaly", "name": "Broad head shape", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/brachycephaly" }, { "slug": "broad-thumb", "name": "Broad thumb", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/broad-thumb" }, { "slug": "proptosis", "name": "Bulging eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/proptosis" }, { "slug": "cleft-palate", "name": "Cleft palate", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/cleft-palate" }, { "slug": "cleft-upper-lip", "name": "Cleft upper lip", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/cleft-upper-lip" }, { "slug": "talipes-equinovarus", "name": "Club feet", "systems": [ "abnormality-of-limbs" ], "url": "https://dantelabs.com/traits/talipes-equinovarus" }, { "slug": "coarse-facial-features", "name": "Coarse facial features", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/coarse-facial-features" }, { "slug": "hyporeflexia", "name": "Decreased reflex response", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyporeflexia" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "posteriorly-rotated-ears", "name": "Ears rotated toward back of head", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/posteriorly-rotated-ears" }, { "slug": "elevated-circulating-alkaline-phosphatase-concentration", "name": "Elevated alkaline phosphatase", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/elevated-circulating-alkaline-phosphatase-concentration" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "oligodontia", "name": "Failure of development of more than six teeth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/oligodontia" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "triphalangeal-thumb", "name": "Finger-like thumb", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/triphalangeal-thumb" }, { "slug": "full-cheeks", "name": "Full cheeks", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/full-cheeks" }, { "slug": "pectus-excavatum", "name": "Funnel chest", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pectus-excavatum" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "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": "growth-delay", "name": "Growth delay", "systems": [ "growth-abnormality" ], "url": "https://dantelabs.com/traits/growth-delay" }, { "slug": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hearing-impairment" }, { "slug": "high-palate", "name": "High palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/high-palate" }, { "slug": "increased-urine-alpha-ketoglutarate-concentration", "name": "Increased urine alpha-ketoglutarate concentration", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/increased-urine-alpha-ketoglutarate-concentration" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "iris-atrophy", "name": "Iris degeneration", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/iris-atrophy" }, { "slug": "micrognathia", "name": "Little lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/micrognathia" }, { "slug": "long-eyebrows", "name": "Long eyebrows", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/long-eyebrows" }, { "slug": "long-eyelashes", "name": "Long eyelashes", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/long-eyelashes" }, { "slug": "long-philtrum", "name": "Long philtrum", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/long-philtrum" }, { "slug": "low-set-ears", "name": "Low-set ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/low-set-ears" }, { "slug": "mixed-hearing-impairment", "name": "Mixed hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/mixed-hearing-impairment" }, { "slug": "polymicrogyria", "name": "More grooves in brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/polymicrogyria" }, { "slug": "narrow-forehead", "name": "Narrow forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/narrow-forehead" }, { "slug": "sensorimotor-neuropathy", "name": "Nerve damage causing decreased feeling and movement", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/sensorimotor-neuropathy" }, { "slug": "optic-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/optic-atrophy" }, { "slug": "optic-disc-pallor", "name": "Optic disc pallor", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/optic-disc-pallor" }, { "slug": "overfolded-helix", "name": "Overfolded ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/overfolded-helix" }, { "slug": "peripheral-axonal-neuropathy", "name": "Peripheral axonal neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/peripheral-axonal-neuropathy" }, { "slug": "pointed-chin", "name": "Pointed chin", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/pointed-chin" }, { "slug": "protruding-tongue", "name": "Protruding tongue", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/protruding-tongue" }, { "slug": "s-shaped-palpebral-fissures", "name": "S-shaped eyes", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/s-shaped-palpebral-fissures" }, { "slug": "short-distal-phalanx-of-finger", "name": "Short outermost finger bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/short-distal-phalanx-of-finger" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "short-metacarpal", "name": "Shortened long bone of hand", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/short-metacarpal" }, { "slug": "small-nail", "name": "Small nail", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/small-nail" }, { "slug": "smooth-philtrum", "name": "Smooth philtrum", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/smooth-philtrum" }, { "slug": "tapered-finger", "name": "Tapered finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/tapered-finger" }, { "slug": "tented-upper-lip-vermilion", "name": "Tented mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tented-upper-lip-vermilion" }, { "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" }, { "slug": "uplifted-earlobe", "name": "Uplifted earlobe", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/uplifted-earlobe" }, { "slug": "upslanted-palpebral-fissure", "name": "Upward slanting of the opening between the eyelids", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/upslanted-palpebral-fissure" }, { "slug": "ventriculomegaly", "name": "Ventriculomegaly", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ventriculomegaly" }, { "slug": "visual-impairment", "name": "Visual impairment", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/visual-impairment" }, { "slug": "wide-mouth", "name": "Wide mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/wide-mouth" }, { "slug": "wide-nasal-bridge", "name": "Wide nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/wide-nasal-bridge" }, { "slug": "hypertelorism", "name": "Wide-set eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypertelorism" }, { "slug": "widow-s-peak", "name": "Widow's peak", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/widow-s-peak" }, { "slug": "malar-flattening", "name": "Zygomatic flattening", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/malar-flattening" } ], "related": [ { "slug": "piga", "symbol": "PIGA", "name": "phosphatidylinositol glycan anchor biosynthesis class A", "shared": 2, "url": "https://dantelabs.com/tr/genes/piga" }, { "slug": "pigp", "symbol": "PIGP", "name": "phosphatidylinositol glycan anchor biosynthesis class P", "shared": 2, "url": "https://dantelabs.com/tr/genes/pigp" }, { "slug": "pigq", "symbol": "PIGQ", "name": "phosphatidylinositol glycan anchor biosynthesis class Q", "shared": 2, "url": "https://dantelabs.com/tr/genes/pigq" }, { "slug": "pigs", "symbol": "PIGS", "name": "phosphatidylinositol glycan anchor biosynthesis class S", "shared": 2, "url": "https://dantelabs.com/tr/genes/pigs" }, { "slug": "aars1", "symbol": "AARS1", "name": "alanyl-tRNA synthetase 1", "shared": 1, "url": "https://dantelabs.com/tr/genes/aars1" }, { "slug": "abat", "symbol": "ABAT", "name": "4-aminobutyrate aminotransferase", "shared": 1, "url": "https://dantelabs.com/tr/genes/abat" }, { "slug": "actl6b", "symbol": "ACTL6B", "name": "actin like 6B", "shared": 1, "url": "https://dantelabs.com/tr/genes/actl6b" }, { "slug": "adam22", "symbol": "ADAM22", "name": "ADAM metallopeptidase domain 22", "shared": 1, "url": "https://dantelabs.com/tr/genes/adam22" }, { "slug": "aldh7a1", "symbol": "ALDH7A1", "name": "aldehyde dehydrogenase 7 family member A1", "shared": 1, "url": "https://dantelabs.com/tr/genes/aldh7a1" }, { "slug": "alg13", "symbol": "ALG13", "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit", "shared": 1, "url": "https://dantelabs.com/tr/genes/alg13" }, { "slug": "ap3b2", "symbol": "AP3B2", "name": "adaptor related protein complex 3 subunit beta 2", "shared": 1, "url": "https://dantelabs.com/tr/genes/ap3b2" }, { "slug": "arhgef9", "symbol": "ARHGEF9", "name": "Cdc42 guanine nucleotide exchange factor 9", "shared": 1, "url": "https://dantelabs.com/tr/genes/arhgef9" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }