{ "url": "https://dantelabs.com/sv/genes/b4galnt1", "gene": { "slug": "b4galnt1", "symbol": "B4GALNT1", "name": "beta-1,4-N-acetyl-galactosaminyltransferase 1", "hgnc": "HGNC:4117", "summary": null, "location": "12q13.3", "locusType": "gene with protein product", "aliases": [ "beta1-4GalNAc-T" ], "previousSymbols": [ "GALGT", "SPG26" ], "ensemblId": "ENSG00000135454", "entrezId": 2583, "omim": [ "601873" ], "uniprot": [ "Q00973" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "12", "start": 57623409, "end": 57633201, "strand": "-", "ensemblTranscript": "ENST00000341156.9", "refseqTranscript": "NM_001478.5", "ensemblProtein": "ENSP00000341562.4", "refseqProtein": "NP_001469.1", "exons": [ { "start": 57623409, "end": 57626961 }, { "start": 57627618, "end": 57627858 }, { "start": 57628122, "end": 57628262 }, { "start": 57628713, "end": 57628903 }, { "start": 57629048, "end": 57629146 }, { "start": 57630152, "end": 57630332 }, { "start": 57630478, "end": 57630518 }, { "start": 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"agap2" }, { "symbol": "TSPAN31", "ensemblId": "ENSG00000135452", "biotype": "protein_coding", "start": 57738013, "end": 57751383, "strand": "+", "slug": "tspan31" }, { "symbol": "CDK4", "ensemblId": "ENSG00000135446", "biotype": "protein_coding", "start": 57746043, "end": 57756013, "strand": "-", "slug": "cdk4" }, { "symbol": "MARCHF9", "ensemblId": "ENSG00000139266", "biotype": "protein_coding", "start": 57754940, "end": 57760411, "strand": "+", "slug": "marchf9" }, { "symbol": "CYP27B1", "ensemblId": "ENSG00000111012", "biotype": "protein_coding", "start": 57762334, "end": 57768986, "strand": "-", "slug": "cyp27b1" }, { "symbol": "METTL1", "ensemblId": "ENSG00000037897", "biotype": "protein_coding", "start": 57768471, "end": 57772131, "strand": "-", "slug": "mettl1" }, { "symbol": "EEF1AKMT3", "ensemblId": "ENSG00000123427", "biotype": "protein_coding", "start": 57771492, "end": 57782544, "strand": "+", "slug": "eef1akmt3" }, { "symbol": "", "ensemblId": "ENSG00000257921", "biotype": "protein_coding", "start": 57772660, "end": 57797554, "strand": "+" }, { "symbol": "TSFM", "ensemblId": "ENSG00000123297", "biotype": "protein_coding", "start": 57782731, "end": 57828655, "strand": "+", "slug": "tsfm" }, { "symbol": "AVIL", "ensemblId": "ENSG00000135407", "biotype": "protein_coding", "start": 57797376, "end": 57818734, "strand": "-", "slug": "avil" }, { "symbol": "CTDSP2", "ensemblId": "ENSG00000175215", "biotype": "protein_coding", "start": 57819925, "end": 57846976, "strand": "-", "slug": "ctdsp2" }, { "symbol": "ATP23", "ensemblId": "ENSG00000166896", "biotype": "protein_coding", "start": 57906039, "end": 57959148, "strand": "+", "slug": "atp23" } ], "truncated": false }, "reports": [ { "slug": "hereditary-spastic-paraplegia", "name": "Hereditär spastisk paraplegi", "diseases": [ { "mondoId": "MONDO:0019064", "name": "Hereditär spastisk paraplegi (alla typer)", "genes": 66, "inheritance": null, "description": "Samlingsbegrepp för alla hereditära spastiska paraplegier, inklusive SPG4 (SPAST), den vanligaste dominanta formen, samt SPG5A, SPG6, SPG10, SPG18, SPG30 och SPG31.", "management": null, "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/sv/conditions/hereditary-spastic-paraplegia" } ], "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": "abnormal-cerebellum-morphology", "name": "Abnormality of the cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-cerebellum-morphology" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "babinski-sign", "name": "Babinski sign", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/babinski-sign" }, { "slug": "emotional-lability", "name": "Can't control feelings", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/emotional-lability" }, { "slug": "cataract", "name": "Clouding of the lens of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cataract" }, { "slug": "cerebral-cortical-atrophy", "name": "Decrease in size of the outer layer of the brain due to loss of brain cells", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebral-cortical-atrophy" }, { "slug": "upper-limb-muscle-weakness", "name": "Decreased arm strength", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/upper-limb-muscle-weakness" }, { "slug": "hyporeflexia", "name": "Decreased reflex response", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hyporeflexia" }, { "slug": "decreased-serum-testosterone-concentration", "name": "Decreased serum testosterone level", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/decreased-serum-testosterone-concentration" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "dyskinesia", "name": "Disorder of involuntary muscle movements", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dyskinesia" }, { "slug": "distal-lower-limb-amyotrophy", "name": "Distal lower limb amyotrophy", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/distal-lower-limb-amyotrophy" }, { "slug": "dystonia", "name": "Dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dystonia" }, { "slug": "premature-ovarian-insufficiency", "name": "Early menopause", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/premature-ovarian-insufficiency" }, { "slug": "frequent-falls", "name": "Frequent falls", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/frequent-falls" }, { "slug": "pes-cavus", "name": "High-arched foot", "systems": [ "abnormality-of-limbs" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pes-cavus" }, { "slug": "hyperintensity-of-cerebral-white-matter-on-mri", "name": "Hyperintensity of cerebral white matter on MRI", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperintensity-of-cerebral-white-matter-on-mri" }, { "slug": "impaired-vibration-sensation-at-ankles", "name": "Impaired vibration sensation at ankles", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/impaired-vibration-sensation-at-ankles" }, { "slug": "impaired-vibratory-sensation", "name": "Impaired vibratory sensation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/impaired-vibratory-sensation" }, { "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" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "mild-intellectual-disability", "name": "Intellectual disability, mild", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/mild-intellectual-disability" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "dysmetria", "name": "Lack of coordination of movement", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/dysmetria" }, { "slug": "lower-limb-muscle-weakness", "name": "Lower limb muscle weakness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/lower-limb-muscle-weakness" }, { "slug": "lower-limb-spasticity", "name": "Lower limb spasticity", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/lower-limb-spasticity" }, { "slug": "skeletal-muscle-atrophy", "name": "Muscle degeneration", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy" }, { "slug": "muscle-weakness", "name": "Muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/muscle-weakness" }, { "slug": "sensorimotor-neuropathy", "name": "Nerve damage causing decreased feeling and movement", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sensorimotor-neuropathy" }, { "slug": "posterior-capsular-cataract", "name": "Posterior capsular cataract", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/posterior-capsular-cataract" }, { "slug": "pseudobulbar-paralysis", "name": "Pseudobulbar paralysis", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system", "abnormality-of-the-voice" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pseudobulbar-paralysis" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "spastic-paraplegia", "name": "Spastic paraplegia", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/spastic-paraplegia" }, { "slug": "spastic-gait", "name": "Spastic walk", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/spastic-gait" }, { "slug": "tip-toe-gait", "name": "Toe walking", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/tip-toe-gait" }, { "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": "abnormality-of-the-urinary-system", "name": "Urinary tract abnormalities", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-urinary-system" }, { "slug": "urinary-urgency", "name": "Urinary urgency", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/urinary-urgency" } ], "related": [ { "slug": "abcd1", "symbol": "ABCD1", "name": "ATP binding cassette subfamily D member 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/abcd1" }, { "slug": "abhd16a", "symbol": "ABHD16A", "name": "abhydrolase domain containing 16A, phospholipase", "shared": 1, "url": "https://dantelabs.com/sv/genes/abhd16a" }, { "slug": "aldh18a1", "symbol": "ALDH18A1", "name": "aldehyde dehydrogenase 18 family member A1", "shared": 1, "url": "https://dantelabs.com/sv/genes/aldh18a1" }, { "slug": "amfr", "symbol": "AMFR", "name": "autocrine motility factor receptor", "shared": 1, "url": "https://dantelabs.com/sv/genes/amfr" }, { "slug": "ap4b1", "symbol": "AP4B1", "name": "adaptor related protein complex 4 subunit beta 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/ap4b1" }, { "slug": "ap4e1", "symbol": "AP4E1", "name": "adaptor related protein complex 4 subunit epsilon 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/ap4e1" }, { "slug": "ap4m1", "symbol": "AP4M1", "name": "adaptor related protein complex 4 subunit mu 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/ap4m1" }, { "slug": "ap4s1", "symbol": "AP4S1", "name": "adaptor related protein complex 4 subunit sigma 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/ap4s1" }, { "slug": "ap5z1", "symbol": "AP5Z1", "name": "adaptor related protein complex 5 subunit zeta 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/ap5z1" }, { "slug": "arl6ip1", "symbol": "ARL6IP1", "name": "ARL6 interacting reticulophagy regulator 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/arl6ip1" }, { "slug": "atl1", "symbol": "ATL1", "name": "atlastin GTPase 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/atl1" }, { "slug": "atp13a2", "symbol": "ATP13A2", "name": "ATPase cation transporting 13A2", "shared": 1, "url": "https://dantelabs.com/sv/genes/atp13a2" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }