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"strand": "+", "slug": "slc33a2" }, { "symbol": "RECQL4", "ensemblId": "ENSG00000160957", "biotype": "protein_coding", "start": 144511284, "end": 144517890, "strand": "-", "slug": "recql4" }, { "symbol": "LRRC14", "ensemblId": "ENSG00000160959", "biotype": "protein_coding", "start": 144517957, "end": 144526244, "strand": "+", "slug": "lrrc14" }, { "symbol": "LRRC24", "ensemblId": "ENSG00000254402", "biotype": "protein_coding", "start": 144522385, "end": 144527608, "strand": "-", "slug": "lrrc24" }, { "symbol": "C8orf82", "ensemblId": "ENSG00000213563", "biotype": "protein_coding", "start": 144525733, "end": 144529132, "strand": "-", "slug": "c8orf82" }, { "symbol": "ARHGAP39", "ensemblId": "ENSG00000147799", "biotype": "protein_coding", "start": 144529179, "end": 144685879, "strand": "-", "slug": "arhgap39" } ], "truncated": false }, "reports": [ { "slug": "gpi-anchor-biosynthesis-defects", "name": "GPI Anchor Biosynthesis Defects", "diseases": [ { "mondoId": "MONDO:0024321", "name": "Disorders of GPI Anchor Biosynthesis", "genes": 20, "inheritance": null, "description": "A group of inherited conditions caused by variants in the PIG, PGAP and related genes needed to make and attach the GPI anchor, typically causing developmental delay, low muscle tone and epilepsy.", "management": null, "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/conditions/gpi-anchor-biosynthesis-defects" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gait-disturbance" }, { "slug": "apraxia", "name": "Apraxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/apraxia" }, { "slug": "generalized-non-motor-absence-seizure", "name": "Brief seizures with staring spells", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/generalized-non-motor-absence-seizure" }, { "slug": "broad-nasal-tip", "name": "Broad nasal tip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/broad-nasal-tip" }, { "slug": "myopia", "name": "Close sighted", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/myopia" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "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": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "difficulty-standing", "name": "Difficulty in standing", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/difficulty-standing" }, { "slug": "eeg-abnormality", "name": "EEG abnormality", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/eeg-abnormality" }, { "slug": "elevated-circulating-alkaline-phosphatase-concentration", "name": "Elevated alkaline phosphatase", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/elevated-circulating-alkaline-phosphatase-concentration" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "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": "bilateral-tonic-clonic-seizure", "name": "Grand mal seizures", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure" }, { "slug": "gait-ataxia", "name": "Inability to coordinate movements when walking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/gait-ataxia" }, { "slug": "inability-to-walk", "name": "Inability to walk", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/inability-to-walk" }, { "slug": "hyperreflexia", "name": "Increased reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperreflexia" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "mild-intellectual-disability", "name": "Intellectual disability, mild", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/mild-intellectual-disability" }, { "slug": "spasticity", "name": "Involuntary muscle stiffness, contraction, or spasm", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/spasticity" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "dysmetria", "name": "Lack of coordination of movement", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dysmetria" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "myoclonic-seizure", "name": "Myoclonic seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/myoclonic-seizure" }, { "slug": "narrow-forehead", "name": "Narrow forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/narrow-forehead" }, { "slug": "anteverted-nares", "name": "Nasal tip, upturned", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/anteverted-nares" }, { "slug": "neurodevelopmental-delay", "name": "Neurodevelopmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/neurodevelopmental-delay" }, { "slug": "oculomotor-apraxia", "name": "Oculomotor apraxia", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/oculomotor-apraxia" }, { "slug": "optic-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/optic-atrophy" }, { "slug": "osteopenia", "name": "Osteopenia", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/osteopenia" }, { "slug": "osteoporosis", "name": "Osteoporosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/osteoporosis" }, { "slug": "prominent-forehead", "name": "Prominent forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/prominent-forehead" }, { "slug": "status-epilepticus", "name": "Repeated seizures without recovery between them", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/status-epilepticus" }, { "slug": "cerebellar-hypoplasia", "name": "Small cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebellar-hypoplasia" }, { "slug": "atonic-seizure", "name": "Sudden loss of muscle tone", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/atonic-seizure" }, { "slug": "tremor", "name": "Tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/tremor" }, { "slug": "visual-impairment", "name": "Visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/visual-impairment" }, { "slug": "hypertelorism", "name": "Wide-set eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypertelorism" } ], "related": [ { "slug": "pgap2", "symbol": "PGAP2", "name": "post-GPI attachment to proteins 2", "shared": 1, "url": "https://dantelabs.com/genes/pgap2" }, { "slug": "pgap3", "symbol": "PGAP3", "name": "post-GPI attachment to proteins phospholipase 3", "shared": 1, "url": "https://dantelabs.com/genes/pgap3" }, { "slug": "piga", "symbol": "PIGA", "name": "phosphatidylinositol glycan anchor biosynthesis class A", "shared": 1, "url": "https://dantelabs.com/genes/piga" }, { "slug": "pigb", "symbol": "PIGB", "name": "phosphatidylinositol glycan anchor biosynthesis class B", "shared": 1, "url": "https://dantelabs.com/genes/pigb" }, { "slug": "pigc", "symbol": "PIGC", "name": "phosphatidylinositol glycan anchor biosynthesis class C", "shared": 1, "url": "https://dantelabs.com/genes/pigc" }, { "slug": "pigg", "symbol": "PIGG", "name": "phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)", "shared": 1, "url": "https://dantelabs.com/genes/pigg" }, { "slug": "pigh", "symbol": "PIGH", "name": "phosphatidylinositol glycan anchor biosynthesis class H", "shared": 1, "url": "https://dantelabs.com/genes/pigh" }, { "slug": "pigk", "symbol": "PIGK", "name": "phosphatidylinositol glycan anchor biosynthesis class K", "shared": 1, "url": "https://dantelabs.com/genes/pigk" }, { "slug": "pigl", "symbol": "PIGL", "name": "phosphatidylinositol glycan anchor biosynthesis class L", "shared": 1, "url": "https://dantelabs.com/genes/pigl" }, { "slug": "pign", "symbol": "PIGN", "name": "phosphatidylinositol glycan anchor biosynthesis class N", "shared": 1, "url": "https://dantelabs.com/genes/pign" }, { "slug": "pigo", "symbol": "PIGO", "name": "phosphatidylinositol glycan anchor biosynthesis class O", "shared": 1, "url": "https://dantelabs.com/genes/pigo" }, { "slug": "pigp", "symbol": "PIGP", "name": "phosphatidylinositol glycan anchor biosynthesis class P", "shared": 1, "url": "https://dantelabs.com/genes/pigp" } ], "sources": { "bundleId": "2026.10.18-8b139e39", "panel": "2026-10-18", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }