{ "url": "https://dantelabs.com/it/genes/tmem63a", "gene": { "slug": "tmem63a", "symbol": "TMEM63A", "name": "transmembrane protein 63A", "hgnc": "HGNC:29118", "summary": null, "location": "1q42.12", "locusType": "gene with protein product", "aliases": [], "previousSymbols": [ "KIAA0792" ], "ensemblId": "ENSG00000196187", "entrezId": 9725, "omim": [ "618685" ], "uniprot": [ "O94886" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "1", "start": 225845536, "end": 225882380, "strand": "-", "ensemblTranscript": "ENST00000366835.8", "refseqTranscript": "NM_014698.3", "ensemblProtein": "ENSP00000355800.3", "refseqProtein": "NP_055513.2", "exons": [ { "start": 225845536, "end": 225846932 }, { "start": 225847034, "end": 225847213 }, { "start": 225848492, "end": 225848554 }, { "start": 225848897, "end": 225849012 }, { "start": 225849912, "end": 225850079 }, { "start": 225852664, "end": 225852769 }, { "start": 225853629, "end": 225853791 }, { "start": 225855878, "end": 225855940 }, 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"end": 225924278, "strand": "-" }, { "symbol": "PYCR2", "ensemblId": "ENSG00000143811", "biotype": "protein_coding", "start": 225914982, "end": 225924340, "strand": "-", "slug": "pycr2" }, { "symbol": "LEFTY2", "ensemblId": "ENSG00000143768", "biotype": "protein_coding", "start": 225936598, "end": 225941532, "strand": "-", "slug": "lefty2" }, { "symbol": "SDE2", "ensemblId": "ENSG00000143751", "biotype": "protein_coding", "start": 225982693, "end": 225999385, "strand": "-", "slug": "sde2" }, { "symbol": "H3-3A", "ensemblId": "ENSG00000163041", "biotype": "protein_coding", "start": 226061571, "end": 226073207, "strand": "+", "slug": "h3-3a" }, { "symbol": "ACBD3", "ensemblId": "ENSG00000182827", "biotype": "protein_coding", "start": 226144679, "end": 226186763, "strand": "-", "slug": "acbd3" }, { "symbol": "MIXL1", "ensemblId": "ENSG00000185155", "biotype": "protein_coding", "start": 226223508, "end": 226227384, "strand": "+", "slug": "mixl1" }, { "symbol": "LIN9", "ensemblId": "ENSG00000183814", "biotype": "protein_coding", "start": 226231149, "end": 226309869, "strand": "-", "slug": "lin9" }, { "symbol": "PARP1", "ensemblId": "ENSG00000143799", "biotype": "protein_coding", "start": 226360210, "end": 226408154, "strand": "-", "slug": "parp1" } ], "truncated": false }, "reports": [ { "slug": "pelizaeus-merzbacher-and-hypomyelinating-leukodystrophies", "name": "Malattia di Pelizaeus-Merzbacher e leucodistrofie ipomielinizzanti", "diseases": [ { "mondoId": "MONDO:0032871", "name": "Leucodistrofia ipomielinizzante 19, transitoria infantile (TMEM63A)", "genes": 1, "inheritance": "autosomal-dominant", "description": "Una forma ereditaria rara di leucodistrofia ipomielinizzante, in cui la mielina del cervello non si forma normalmente, causando ritardo dello sviluppo e problemi di movimento.", "management": null, "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/it/conditions/pelizaeus-merzbacher-and-hypomyelinating-leukodystrophies" }, { "slug": "leukodystrophy", "name": "Altre leucodistrofie ereditarie", "diseases": [ { "mondoId": "MONDO:0019046", "name": "Leucodistrofia (altri tipi e tipo non specificato)", "genes": 80, "inheritance": null, "description": "Patologie ereditarie che danneggiano o impediscono la normale formazione della mielina, la sostanza bianca del cervello e del midollo spinale. A seconda del gene coinvolto, i diversi tipi seguono un'ereditarietà autosomica recessiva, autosomica dominante o legata al cromosoma X.", "management": "Conoscere la specifica causa genetica può porre fine a una ricerca diagnostica, guidare le cure di supporto e il monitoraggio, indicare se esiste un trattamento specifico e consentire il test dei familiari.", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/it/conditions/leukodystrophy" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "babinski-sign", "name": "Babinski sign", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/babinski-sign" }, { "slug": "myopia", "name": "Close sighted", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/myopia" }, { "slug": "delayed-ability-to-walk", "name": "Delayed ability to walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/delayed-ability-to-walk" }, { "slug": "delayed-cns-myelination", "name": "Delayed CNS myelination", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/delayed-cns-myelination" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/generalized-hypotonia" }, { "slug": "head-titubation", "name": "Head titubation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/head-titubation" }, { "slug": "hypospadias", "name": "Hypospadias", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypospadias" }, { "slug": "intention-tremor", "name": "Intention tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intention-tremor" }, { "slug": "dysmetria", "name": "Lack of coordination of movement", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dysmetria" }, { "slug": "leukodystrophy", "name": "Leukodystrophy", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/leukodystrophy" }, { "slug": "optic-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/optic-atrophy" }, { "slug": "pendular-nystagmus", "name": "Pendular nystagmus", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/pendular-nystagmus" }, { "slug": "poor-head-control", "name": "Poor head control", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/poor-head-control" }, { "slug": "specific-learning-disability", "name": "Specific learning disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/specific-learning-disability" } ], "related": [ { "slug": "aars1", "symbol": "AARS1", "name": "alanyl-tRNA synthetase 1", "shared": 1, "url": "https://dantelabs.com/it/genes/aars1" }, { "slug": "aars2", "symbol": "AARS2", "name": "alanyl-tRNA synthetase 2, mitochondrial", "shared": 1, "url": "https://dantelabs.com/it/genes/aars2" }, { "slug": "abcd1", "symbol": "ABCD1", "name": "ATP binding cassette subfamily D member 1", "shared": 1, "url": "https://dantelabs.com/it/genes/abcd1" }, { "slug": "acer3", "symbol": "ACER3", "name": "alkaline ceramidase 3", "shared": 1, "url": "https://dantelabs.com/it/genes/acer3" }, { "slug": "adar", "symbol": "ADAR", "name": "adenosine deaminase RNA specific", "shared": 1, "url": "https://dantelabs.com/it/genes/adar" }, { "slug": "aimp1", "symbol": "AIMP1", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1", "shared": 1, "url": "https://dantelabs.com/it/genes/aimp1" }, { "slug": "aimp2", "symbol": "AIMP2", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 2", "shared": 1, "url": "https://dantelabs.com/it/genes/aimp2" }, { "slug": "aldh3a2", "symbol": "ALDH3A2", "name": "aldehyde dehydrogenase 3 family member A2", "shared": 1, "url": "https://dantelabs.com/it/genes/aldh3a2" }, { "slug": "arsa", "symbol": "ARSA", "name": "arylsulfatase A", "shared": 1, "url": "https://dantelabs.com/it/genes/arsa" }, { "slug": "aspa", "symbol": "ASPA", "name": "aspartoacylase", "shared": 1, "url": "https://dantelabs.com/it/genes/aspa" }, { "slug": "atp11a", "symbol": "ATP11A", "name": "ATPase phospholipid transporting 11A", "shared": 1, "url": "https://dantelabs.com/it/genes/atp11a" }, { "slug": "clcn2", "symbol": "CLCN2", "name": "chloride voltage-gated channel 2", "shared": 1, "url": "https://dantelabs.com/it/genes/clcn2" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }