{ "url": "https://dantelabs.com/cs/genes/pik3r2", "gene": { "slug": "pik3r2", "symbol": "PIK3R2", "name": "phosphoinositide-3-kinase regulatory subunit 2", "hgnc": "HGNC:8980", "summary": null, "location": "19p13.11", "locusType": "gene with protein product", "aliases": [ "P85B", "p85", "p85beta", "p85-BETA" ], "previousSymbols": [], "ensemblId": "ENSG00000105647", "entrezId": 5296, "omim": [ "603157" ], "uniprot": [ "O00459" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "19", "start": 18153163, "end": 18170532, "strand": "+", "ensemblTranscript": "ENST00000222254.13", "refseqTranscript": "NM_005027.4", "ensemblProtein": "ENSP00000222254.6", "refseqProtein": "NP_005018.2", "exons": [ { "start": 18153163, "end": 18153294 }, { "start": 18155457, "end": 18156201 }, { "start": 18160471, "end": 18160563 }, { "start": 18160919, "end": 18160969 }, { "start": 18161054, "end": 18161185 }, { "start": 18161279, "end": 18161495 }, { "start": 18161966, "end": 18162051 }, { "start": 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"KCNN1", "ensemblId": "ENSG00000105642", "biotype": "protein_coding", "start": 17947484, "end": 18000085, "strand": "+", "slug": "kcnn1" }, { "symbol": "ARRDC2", "ensemblId": "ENSG00000105643", "biotype": "protein_coding", "start": 18001126, "end": 18015694, "strand": "+", "slug": "arrdc2" }, { "symbol": "IL12RB1", "ensemblId": "ENSG00000096996", "biotype": "protein_coding", "start": 18058995, "end": 18098944, "strand": "-", "slug": "il12rb1" }, { "symbol": "MAST3", "ensemblId": "ENSG00000099308", "biotype": "protein_coding", "start": 18097749, "end": 18151692, "strand": "+", "slug": "mast3" }, { "symbol": "", "ensemblId": "ENSG00000268173", "biotype": "protein_coding", "start": 18153158, "end": 18178117, "strand": "+" }, { "symbol": "IFI30", "ensemblId": "ENSG00000216490", "biotype": "protein_coding", "start": 18173150, "end": 18178122, "strand": "+", "slug": "ifi30" }, { "symbol": "MPV17L2", "ensemblId": "ENSG00000254858", "biotype": "protein_coding", "start": 18193197, "end": 18196948, "strand": "+", "slug": "mpv17l2" }, { "symbol": "RAB3A", "ensemblId": "ENSG00000105649", "biotype": "protein_coding", "start": 18196752, "end": 18204055, "strand": "-", "slug": "rab3a" }, { "symbol": "PDE4C", "ensemblId": "ENSG00000285188", "biotype": "protein_coding", "start": 18207961, "end": 18255419, "strand": "-" }, { "symbol": "PDE4C", "ensemblId": "ENSG00000105650", "biotype": "protein_coding", "start": 18207965, "end": 18248200, "strand": "-", "slug": "pde4c" }, { "symbol": "CIST1", "ensemblId": "ENSG00000284797", "biotype": "protein_coding", "start": 18249950, "end": 18255400, "strand": "-", "slug": "cist1" }, { "symbol": "IQCN", "ensemblId": "ENSG00000130518", "biotype": "protein_coding", "start": 18257098, "end": 18274500, "strand": "-", "slug": "iqcn" }, { "symbol": "JUND", "ensemblId": "ENSG00000130522", "biotype": "protein_coding", "start": 18279694, "end": 18281622, "strand": "-", "slug": "jund" }, { "symbol": "LSM4", "ensemblId": "ENSG00000130520", "biotype": "protein_coding", "start": 18306231, "end": 18323112, "strand": "-", "slug": "lsm4" }, { "symbol": "PGPEP1", "ensemblId": "ENSG00000130517", "biotype": "protein_coding", "start": 18340562, "end": 18369950, "strand": "+", "slug": "pgpep1" }, { "symbol": "GDF15", "ensemblId": "ENSG00000130513", "biotype": "protein_coding", "start": 18374731, "end": 18389176, "strand": "+", "slug": "gdf15" }, { "symbol": "LRRC25", "ensemblId": "ENSG00000175489", "biotype": "protein_coding", "start": 18390351, "end": 18397622, "strand": "-", "slug": "lrrc25" }, { "symbol": "SSBP4", "ensemblId": "ENSG00000130511", "biotype": "protein_coding", "start": 18418864, "end": 18434563, "strand": "+", "slug": "ssbp4" }, { "symbol": "ISYNA1", "ensemblId": "ENSG00000105655", "biotype": "protein_coding", "start": 18434388, "end": 18438309, "strand": "-", "slug": "isyna1" }, { "symbol": "ELL", "ensemblId": "ENSG00000105656", "biotype": "protein_coding", "start": 18442663, "end": 18522116, "strand": "-", "slug": "ell" }, { "symbol": "FKBP8", "ensemblId": "ENSG00000105701", "biotype": "protein_coding", "start": 18531751, "end": 18544264, "strand": "-", "slug": "fkbp8" }, { "symbol": "KXD1", "ensemblId": "ENSG00000105700", "biotype": "protein_coding", "start": 18557683, "end": 18569387, "strand": "+", "slug": "kxd1" }, { "symbol": "UBA52", "ensemblId": "ENSG00000221983", "biotype": "protein_coding", "start": 18571722, "end": 18577550, "strand": "+", "slug": "uba52" }, { "symbol": "CRLF1", "ensemblId": "ENSG00000006016", "biotype": "protein_coding", "start": 18572220, "end": 18607741, "strand": "-", "slug": "crlf1" }, { "symbol": "REX1BD", "ensemblId": "ENSG00000006015", "biotype": "protein_coding", "start": 18588685, "end": 18592342, "strand": "+", "slug": "rex1bd" }, { "symbol": "TMEM59L", "ensemblId": "ENSG00000105696", "biotype": "protein_coding", "start": 18607335, "end": 18621050, "strand": "+", "slug": "tmem59l" }, { "symbol": "KLHL26", "ensemblId": "ENSG00000167487", "biotype": "protein_coding", "start": 18637018, "end": 18671721, "strand": "+", "slug": "klhl26" } ], "truncated": false }, "reports": [ { "slug": "mtor-pathway-megalencephaly-overgrowth", "name": "MTOR Pathway Megalencephaly and Overgrowth Disorders", "diseases": [ { "mondoId": "MONDO:0100283", "name": "Overgrowth and Cerebral Malformations due to MTOR Pathway Gene Changes", "genes": 5, "inheritance": null, "description": "Caused by activating changes in AKT3, MTOR, PIK3CA or PIK3R2, genes of the PI3K-AKT-MTOR growth pathway. Changes either arise de novo in one copy of the gene in every cell, or after conception so that only some cells are affected (mosaicism).", "management": "Care involves brain imaging and monitoring for hydrocephalus, epilepsy treatment, which sometimes includes surgery, and developmental support. Alpelisib is approved for reducing overgrowth in PIK3CA-related overgrowth, but it is not known whether it helps the brain features. Most cases arise new, so recurrence risk is usually low, but genetic counselling is recommended.", "evidence": { "gencc": [ "ClinGen", "G2P", "Genomics England PanelApp", "Illumina", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/cs/conditions/mtor-pathway-megalencephaly-overgrowth" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-cardiac-septum-morphology", "name": "Abnormal cardiac septum morphology", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-cardiac-septum-morphology" }, { "slug": "abnormal-localization-of-kidney", "name": "Abnormal localisation of kidneys", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-localization-of-kidney" }, { "slug": "abnormal-nasal-morphology", "name": "Abnormal of nasal shape", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-nasal-morphology" }, { "slug": "atrial-septal-defect", "name": "An opening in the wall separating the top two chambers of the heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/atrial-septal-defect" }, { "slug": "macrocephaly", "name": "Big calvaria", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/macrocephaly" }, { "slug": "blindness", "name": "Blindness", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/blindness" }, { "slug": "long-palpebral-fissure", "name": "Broad opening between the eyelids", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/long-palpebral-fissure" }, { "slug": "telecanthus", "name": "Corners of eye widely separated", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/telecanthus" }, { "slug": "depressed-nasal-bridge", "name": "Depressed nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/depressed-nasal-bridge" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "megalencephaly", "name": "Enlarged brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/megalencephaly" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "postaxial-hand-polydactyly", "name": "Extra little finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/postaxial-hand-polydactyly" }, { "slug": "pachygyria", "name": "Fewer and broader ridges in brain", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/pachygyria" }, { "slug": "frontal-bossing", "name": "Frontal bossing", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/frontal-bossing" }, { "slug": "overgrowth", "name": "General overgrowth", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/overgrowth" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "high-forehead", "name": "High forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/high-forehead" }, { "slug": "ventricular-septal-defect", "name": "Hole in heart wall separating two lower heart chambers", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ventricular-septal-defect" }, { "slug": "kyphosis", "name": "Hunched back", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/kyphosis" }, { "slug": "knee-flexion-contracture", "name": "Inability to straighten knee", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/knee-flexion-contracture" }, { "slug": "abnormally-large-globe", "name": "Increased size of eyes", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/abnormally-large-globe" }, { "slug": "profound-intellectual-disability", "name": "IQ less than 20", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/profound-intellectual-disability" }, { "slug": "axial-hypotonia", "name": "Low muscle tone in trunk", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/axial-hypotonia" }, { "slug": "mitral-regurgitation", "name": "Mitral regurgitation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/mitral-regurgitation" }, { "slug": "polymicrogyria", "name": "More grooves in brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/polymicrogyria" }, { "slug": "skeletal-muscle-atrophy", "name": "Muscle degeneration", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy" }, { "slug": "narrow-mouth", "name": "Narrow mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/narrow-mouth" }, { "slug": "postaxial-polydactyly", "name": "Postaxial polydactyly", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/postaxial-polydactyly" }, { "slug": "thick-corpus-callosum", "name": "Thick corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/thick-corpus-callosum" }, { "slug": "thoracic-scoliosis", "name": "Thoracic scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/thoracic-scoliosis" }, { "slug": "hydrocephalus", "name": "Too much cerebrospinal fluid in the brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hydrocephalus" }, { "slug": "hypoplasia-of-the-corpus-callosum", "name": "Underdevelopment of part of brain called corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum" }, { "slug": "vascular-ring", "name": "Vascular ring", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/vascular-ring" }, { "slug": "ventriculomegaly", "name": "Ventriculomegaly", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ventriculomegaly" }, { "slug": "hypertelorism", "name": "Wide-set eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypertelorism" } ], "related": [ { "slug": "akt3", "symbol": "AKT3", "name": "AKT serine/threonine kinase 3", "shared": 1, "url": "https://dantelabs.com/cs/genes/akt3" }, { "slug": "ccnd2", "symbol": "CCND2", "name": "cyclin D2", "shared": 1, "url": "https://dantelabs.com/cs/genes/ccnd2" }, { "slug": "mtor", "symbol": "MTOR", "name": "mechanistic target of rapamycin kinase", "shared": 1, "url": "https://dantelabs.com/cs/genes/mtor" }, { "slug": "pik3ca", "symbol": "PIK3CA", "name": "phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha", "shared": 1, "url": "https://dantelabs.com/cs/genes/pik3ca" } ], "sources": { "bundleId": "2026.10.19-9814e911", "panel": "2026-10-19", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 1, "url": "https://dantelabs.com/genes/pik3r2/variants", "items": [ { "slug": "g373r", "name": "G373R", "commonName": null, "symbol": "PIK3R2", "classification": "pathogenic", "stars": 3, "hgvsC": "c.1117G>A", "position": 18162974, "grch37Position": 18273784, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/pik3r2/variants/g373r" } ] } }