{ "url": "https://dantelabs.com/fr/genes/hepacam", "gene": { "slug": "hepacam", "symbol": "HEPACAM", "name": "hepatic and glial cell adhesion molecule", "hgnc": "HGNC:26361", "summary": null, "location": "11q24.2", "locusType": "gene with protein product", "aliases": [ "FLJ25530", "GLIALCAM" ], "previousSymbols": [], "ensemblId": "ENSG00000165478", "entrezId": 220296, "omim": [ "611642" ], "uniprot": [ "Q14CZ8" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "11", "start": 124919205, "end": 124936047, "strand": "-", "ensemblTranscript": "ENST00000298251.5", "refseqTranscript": "NM_152722.5", "ensemblProtein": "ENSP00000298251.4", "refseqProtein": "NP_689935.2", "exons": [ { "start": 124919205, "end": 124921440 }, { "start": 124922388, "end": 124922458 }, { "start": 124922745, "end": 124922818 }, { "start": 124923340, "end": 124923433 }, { "start": 124923729, "end": 124924010 }, { "start": 124924728, "end": 124925069 }, { "start": 124935922, "end": 124936047 } ], "cds": { "start": 124921138, "end": 124936006 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "11", "start": 124789089, "end": 124806308, "strand": "-" }, "neighbourhood": { "release": "116", "start": 124427626, "end": 125427625, "genes": [ { "symbol": "OR8B8", "ensemblId": "ENSG00000197125", "biotype": "protein_coding", "start": 124437445, "end": 124445696, "strand": "-", "slug": "or8b8" }, { "symbol": "OR8B12", "ensemblId": "ENSG00000170953", "biotype": "protein_coding", "start": 124539635, "end": 124545333, "strand": "-", "slug": "or8b12" }, { "symbol": "OR8A1", "ensemblId": "ENSG00000196119", "biotype": "protein_coding", "start": 124566660, "end": 124582942, "strand": "+", "slug": "or8a1" }, { "symbol": "PANX3", "ensemblId": "ENSG00000154143", "biotype": "protein_coding", "start": 124611428, "end": 124620356, "strand": "+", "slug": "panx3" }, { "symbol": "FYRD1", "ensemblId": "ENSG00000154144", "biotype": "protein_coding", "start": 124622792, "end": 124648640, "strand": "+", "slug": "fyrd1" }, { "symbol": "SIAE", "ensemblId": "ENSG00000110013", "biotype": "protein_coding", "start": 124633113, "end": 124695707, "strand": "-", "slug": "siae" }, { "symbol": "SPA17", "ensemblId": "ENSG00000064199", "biotype": "protein_coding", "start": 124673327, "end": 124698312, "strand": "+", "slug": "spa17" }, { "symbol": "NRGN", "ensemblId": "ENSG00000154146", "biotype": "protein_coding", "start": 124739939, "end": 124749342, "strand": "+", "slug": "nrgn" }, { "symbol": "VSIG2", "ensemblId": "ENSG00000019102", "biotype": "protein_coding", "start": 124747472, "end": 124752274, "strand": "-", "slug": "vsig2" }, { "symbol": "ESAM", "ensemblId": "ENSG00000149564", "biotype": "protein_coding", "start": 124752583, "end": 124762323, "strand": "-", "slug": "esam" }, { "symbol": "MSANTD2", "ensemblId": "ENSG00000120458", "biotype": "protein_coding", "start": 124764684, "end": 124800706, "strand": "-", "slug": "msantd2" }, { "symbol": "ROBO3", "ensemblId": "ENSG00000154134", "biotype": "protein_coding", "start": 124865413, "end": 124881471, "strand": "+", "slug": "robo3" }, { "symbol": "ROBO4", "ensemblId": "ENSG00000154133", "biotype": "protein_coding", "start": 124883666, "end": 124898500, "strand": "-", "slug": "robo4" }, { "symbol": "HEPN1", "ensemblId": "ENSG00000221932", "biotype": "protein_coding", "start": 124919250, "end": 124920677, "strand": "+", "slug": "hepn1" }, { "symbol": "CCDC15", "ensemblId": "ENSG00000149548", "biotype": "protein_coding", "start": 124954056, "end": 125041649, "strand": "+", "slug": "ccdc15" }, { "symbol": "SLC37A2", "ensemblId": "ENSG00000134955", "biotype": "protein_coding", "start": 125063067, "end": 125090516, "strand": "+", "slug": "slc37a2" }, { "symbol": "TMEM218", "ensemblId": "ENSG00000150433", "biotype": "protein_coding", "start": 125094379, "end": 125111870, "strand": "-", "slug": "tmem218" }, { "symbol": "PKNOX2", "ensemblId": "ENSG00000165495", "biotype": "protein_coding", "start": 125164537, "end": 125434287, "strand": "+", "slug": "pknox2" } ], "truncated": false }, "reports": [ { "slug": "megalencephalic-leukoencephalopathy-with-subcortical-cysts", "name": "Leucoencéphalopathie mégalencéphalique avec kystes sous-corticaux", "diseases": [ { "mondoId": "MONDO:0011391", "name": "Leucoencéphalopathie mégalencéphalique avec kystes sous-corticaux (MLC1, HEPACAM, GPRC5B)", "genes": 3, "inheritance": null, "description": "Provoque une macrocéphalie dès la petite enfance, accompagnée de troubles de l'équilibre et de spasticité qui s'aggravent lentement, et parfois de crises d'épilepsie ; certaines formes liées à HEPACAM s'améliorent avec le temps (MLC à rémission).", "management": "Le diagnostic explique les anomalies observées à l'imagerie cérébrale, oriente la prise en charge des crises d'épilepsie et des soins de soutien, et précise le risque pour les membres de la famille.", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/fr/conditions/megalencephalic-leukoencephalopathy-with-subcortical-cysts" }, { "slug": "leukodystrophy", "name": "Autres leucodystrophies héréditaires", "diseases": [ { "mondoId": "MONDO:0019046", "name": "Leucodystrophie (autres types et types non précisés)", "genes": 80, "inheritance": null, "description": "Maladies héréditaires qui altèrent ou empêchent la formation normale de la myéline, la substance blanche du cerveau et de la moelle épinière. Selon le gène concerné, les différents types suivent une hérédité autosomique récessive, autosomique dominante ou liée à l'X.", "management": "Connaître la cause génétique précise peut mettre fin à une recherche diagnostique, guider les soins de soutien et la surveillance, indiquer s'il existe un traitement spécifique et permettre le dépistage des apparentés.", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/fr/conditions/leukodystrophy" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormality-of-extrapyramidal-motor-function", "name": "Abnormality of extrapyramidal motor function", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-extrapyramidal-motor-function" }, { "slug": "absent-speech", "name": "Absent speech development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/absent-speech" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "attention-deficit-hyperactivity-disorder", "name": "Attention deficit", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/attention-deficit-hyperactivity-disorder" }, { "slug": "autism", "name": "Autism", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/autism" }, { "slug": "autistic-behavior", "name": "Autism spectrum disorder", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/autistic-behavior" }, { "slug": "atypical-behavior", "name": "Behavioral abnormality", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/atypical-behavior" }, { "slug": "macrocephaly", "name": "Big calvaria", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/macrocephaly" }, { "slug": "cafe-au-lait-spot", "name": "Birthmark", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cafe-au-lait-spot" }, { "slug": "cerebral-subcortical-cyst", "name": "Cerebral subcortical cyst", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebral-subcortical-cyst" }, { "slug": "cerebral-white-matter-atrophy", "name": "Cerebral white matter atrophy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cerebral-white-matter-atrophy" }, { "slug": "clumsiness", "name": "Clumsiness", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/clumsiness" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "slug": "cerebral-atrophy", "name": "Degeneration of cerebrum", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/cerebral-atrophy" }, { "slug": "delayed-speech-and-language-development", "name": "Delayed speech and language development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/delayed-speech-and-language-development" }, { "slug": "depressed-nasal-bridge", "name": "Depressed nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/depressed-nasal-bridge" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "diffuse-spongiform-leukoencephalopathy", "name": "Diffuse spongiform leukoencephalopathy", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/diffuse-spongiform-leukoencephalopathy" }, { "slug": "diffuse-swelling-of-cerebral-white-matter", "name": "Diffuse swelling of cerebral white matter", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/diffuse-swelling-of-cerebral-white-matter" }, { "slug": "diffuse-white-matter-abnormalities", "name": "Diffuse white matter abnormalities", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/diffuse-white-matter-abnormalities" }, { "slug": "foot-polydactyly", "name": "Duplication of bones of the toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/foot-polydactyly" }, { "slug": "dystonia", "name": "Dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dystonia" }, { "slug": "megalencephaly", "name": "Enlarged brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/megalencephaly" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "preaxial-hand-polydactyly", "name": "Extra thumb", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/preaxial-hand-polydactyly" }, { "slug": "hepatic-steatosis", "name": "Fatty infiltration of liver", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-digestive-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hepatic-steatosis" }, { "slug": "frontal-bossing", "name": "Frontal bossing", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/frontal-bossing" }, { "slug": "intestinal-polyposis", "name": "Growths in inner lining of intestine", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intestinal-polyposis" }, { "slug": "hurthle-cell-thyroid-adenoma", "name": "Hurthle cell thyroid adenoma", "systems": [ "abnormality-of-the-endocrine-system", "neoplasm" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hurthle-cell-thyroid-adenoma" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "mild-intellectual-disability", "name": "Intellectual disability, mild", "systems": [ "abnormality-of-the-nervous-system" ], "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": "athetosis", "name": "Involuntary writhing movements in fingers, hands, toes, and feet", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/athetosis" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "lower-limb-spasticity", "name": "Lower limb spasticity", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lower-limb-spasticity" }, { "slug": "lymphoid-nodular-hyperplasia", "name": "Lymphoid nodular hyperplasia", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/lymphoid-nodular-hyperplasia" }, { "slug": "mental-deterioration", "name": "Mental deterioration", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/mental-deterioration" }, { "slug": "midface-retrusion", "name": "Midface retrusion", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/midface-retrusion" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "multiple-lipomas", "name": "Multiple fatty lumps", "systems": [ "abnormality-of-the-musculoskeletal-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/multiple-lipomas" }, { "slug": "numerous-nevi", "name": "Numerous moles", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/numerous-nevi" }, { "slug": "penile-freckling", "name": "Penile freckling", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/penile-freckling" }, { "slug": "dysphagia", "name": "Poor swallowing", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysphagia" }, { "slug": "postnatal-macrocephaly", "name": "Postnatal macrocephaly", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/postnatal-macrocephaly" }, { "slug": "motor-deterioration", "name": "Progressive degeneration of movement", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/motor-deterioration" }, { "slug": "status-epilepticus", "name": "Repeated seizures without recovery between them", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/status-epilepticus" }, { "slug": "short-nose", "name": "Short nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/short-nose" }, { "slug": "hypertonia", "name": "Spasticity and rigidity of muscles", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/hypertonia" }, { "slug": "thyroid-carcinoma", "name": "Thyroid carcinoma", "systems": [ "abnormality-of-the-endocrine-system", "neoplasm" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/thyroid-carcinoma" }, { "slug": "upper-limb-spasticity", "name": "Uncontrollable movement in upper arms", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/upper-limb-spasticity" }, { "slug": "unsteady-gait", "name": "Unsteady walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/unsteady-gait" }, { "slug": "ventriculomegaly", "name": "Ventriculomegaly", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/ventriculomegaly" }, { "slug": "hypertelorism", "name": "Wide-set eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hypertelorism" }, { "slug": "progressive-neurologic-deterioration", "name": "Worsening neurological symptoms", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/progressive-neurologic-deterioration" } ], "related": [ { "slug": "gprc5b", "symbol": "GPRC5B", "name": "G protein-coupled receptor class C group 5 member B", "shared": 2, "url": "https://dantelabs.com/fr/genes/gprc5b" }, { "slug": "mlc1", "symbol": "MLC1", "name": "modulator of VRAC current 1", "shared": 2, "url": "https://dantelabs.com/fr/genes/mlc1" }, { "slug": "aars1", "symbol": "AARS1", "name": "alanyl-tRNA synthetase 1", "shared": 1, "url": "https://dantelabs.com/fr/genes/aars1" }, { "slug": "aars2", "symbol": "AARS2", "name": "alanyl-tRNA synthetase 2, mitochondrial", "shared": 1, "url": "https://dantelabs.com/fr/genes/aars2" }, { "slug": "abcd1", "symbol": "ABCD1", "name": "ATP binding cassette subfamily D member 1", "shared": 1, "url": "https://dantelabs.com/fr/genes/abcd1" }, { "slug": "acer3", "symbol": "ACER3", "name": "alkaline ceramidase 3", "shared": 1, "url": "https://dantelabs.com/fr/genes/acer3" }, { "slug": "adar", "symbol": "ADAR", "name": "adenosine deaminase RNA specific", "shared": 1, "url": "https://dantelabs.com/fr/genes/adar" }, { "slug": "aimp1", "symbol": "AIMP1", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1", "shared": 1, "url": "https://dantelabs.com/fr/genes/aimp1" }, { "slug": "aimp2", "symbol": "AIMP2", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 2", "shared": 1, "url": "https://dantelabs.com/fr/genes/aimp2" }, { "slug": "aldh3a2", "symbol": "ALDH3A2", "name": "aldehyde dehydrogenase 3 family member A2", "shared": 1, "url": "https://dantelabs.com/fr/genes/aldh3a2" }, { "slug": "arsa", "symbol": "ARSA", "name": "arylsulfatase A", "shared": 1, "url": "https://dantelabs.com/fr/genes/arsa" }, { "slug": "aspa", "symbol": "ASPA", "name": "aspartoacylase", "shared": 1, "url": "https://dantelabs.com/fr/genes/aspa" } ], "sources": { "bundleId": "2026.10.16-c6eea6bf", "panel": "2026-10-16", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }