{ "url": "https://dantelabs.com/genes/gale", "gene": { "slug": "gale", "symbol": "GALE", "name": "UDP-galactose-4-epimerase", "hgnc": "HGNC:4116", "summary": null, "location": "1p36.11", "locusType": "gene with protein product", "aliases": [ "SDR1E1" ], "previousSymbols": [], "ensemblId": "ENSG00000117308", "entrezId": 2582, "omim": [ "606953" ], "uniprot": [ "Q14376" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "1", "start": 23795599, "end": 23800754, "strand": "-", "ensemblTranscript": "ENST00000617979.5", "refseqTranscript": "NM_001008216.2", "ensemblProtein": "ENSP00000483375.1", "refseqProtein": "NP_001008217.1", "exons": [ { "start": 23795599, "end": 23796007 }, { "start": 23796151, "end": 23796265 }, { "start": 23796509, "end": 23796586 }, { "start": 23796697, "end": 23796782 }, { "start": 23796876, "end": 23796942 }, { "start": 23797034, "end": 23797147 }, { "start": 23797695, "end": 23797871 }, { "start": 23798117, "end": 23798230 }, { "start": 23798615, "end": 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"symbol": "E2F2", "ensemblId": "ENSG00000007968", "biotype": "protein_coding", "start": 23506423, "end": 23531241, "strand": "-", "slug": "e2f2" }, { "symbol": "ID3", "ensemblId": "ENSG00000117318", "biotype": "protein_coding", "start": 23557440, "end": 23560586, "strand": "-", "slug": "id3" }, { "symbol": "RPL11", "ensemblId": "ENSG00000142676", "biotype": "protein_coding", "start": 23691685, "end": 23698426, "strand": "+", "slug": "rpl11" }, { "symbol": "ELOA", "ensemblId": "ENSG00000011007", "biotype": "protein_coding", "start": 23743153, "end": 23762059, "strand": "+", "slug": "eloa" }, { "symbol": "PITHD1", "ensemblId": "ENSG00000057757", "biotype": "protein_coding", "start": 23778365, "end": 23788232, "strand": "+", "slug": "pithd1" }, { "symbol": "LYPLA2", "ensemblId": "ENSG00000011009", "biotype": "protein_coding", "start": 23791110, "end": 23795545, "strand": "+", "slug": "lypla2" }, { "symbol": "HMGCL", "ensemblId": "ENSG00000117305", "biotype": "protein_coding", "start": 23801877, "end": 23838620, "strand": "-", "slug": "hmgcl" }, { "symbol": "FUCA1", "ensemblId": "ENSG00000179163", "biotype": "protein_coding", "start": 23845077, "end": 23868361, "strand": "-", "slug": "fuca1" }, { "symbol": "CNR2", "ensemblId": "ENSG00000188822", "biotype": "protein_coding", "start": 23870515, "end": 23913396, "strand": "-", "slug": "cnr2" }, { "symbol": "PNRC2", "ensemblId": "ENSG00000189266", "biotype": "protein_coding", "start": 23956839, "end": 23963776, "strand": "+", "slug": "pnrc2" }, { "symbol": "SRSF10", "ensemblId": "ENSG00000188529", "biotype": "protein_coding", "start": 23962474, "end": 23980927, "strand": "-", "slug": "srsf10" }, { "symbol": "MYOM3", "ensemblId": "ENSG00000142661", "biotype": "protein_coding", "start": 24054822, "end": 24112190, "strand": "-", "slug": "myom3" }, { "symbol": "IL22RA1", "ensemblId": "ENSG00000142677", "biotype": "protein_coding", "start": 24119769, "end": 24143301, "strand": "-", "slug": "il22ra1" }, { "symbol": "IFNLR1", "ensemblId": "ENSG00000185436", "biotype": "protein_coding", "start": 24154168, "end": 24187959, "strand": "-", "slug": "ifnlr1" }, { "symbol": "GRHL3", "ensemblId": "ENSG00000158055", "biotype": "protein_coding", "start": 24199558, "end": 24364482, "strand": "+", "slug": "grhl3" } ], "truncated": false }, "reports": [ { "slug": "galactosemia", "name": "Galactosemia", "diseases": [ { "mondoId": "MONDO:0018116", "name": "Galactosemia", "genes": 4, "inheritance": "autosomal-recessive", "description": "Includes classic galactosemia (GALT) and galactokinase (GALK1), epimerase (GALE) and mutarotase (GALM) deficiencies, which can cause life-threatening illness in newborns, liver problems or cataracts; the common Duarte variant on its own usually causes no disease.", "management": "Knowing allows prompt removal of galactose from the diet, which prevents the acute newborn illness and, in galactokinase deficiency, cataracts.", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/conditions/galactosemia" }, { "slug": "inherited-thrombocytopenias", "name": "Inherited Thrombocytopenias", "diseases": [ { "mondoId": "MONDO:0100241", "name": "Inherited Thrombocytopenia", "genes": 33, "inheritance": null, "description": "A group of conditions causing a lifelong low platelet count, linked to genes such as MYH9, ANKRD26, ETV6, WAS, MPL, RBM8A, GATA1 and MECOM, and inherited in dominant, recessive or X-linked patterns.", "management": "A genetic diagnosis avoids misdiagnosis as immune thrombocytopenia, with unnecessary steroids or spleen removal, and guides monitoring for related kidney, hearing or blood problems.", "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/conditions/inherited-thrombocytopenias" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "aminoaciduria", "name": "Abnormal urinary amino-acid findings", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/aminoaciduria" }, { "slug": "gingival-bleeding", "name": "Bleeding gums", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/gingival-bleeding" }, { "slug": "cerebral-hemorrhage", "name": "Bleeding in brain", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebral-hemorrhage" }, { "slug": "abnormal-bleeding", "name": "Bleeding tendency", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/abnormal-bleeding" }, { "slug": "epistaxis", "name": "Bloody nose", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/epistaxis" }, { "slug": "cataract", "name": "Clouding of the lens of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cataract" }, { "slug": "decreased-total-leukocyte-count", "name": "Decreased blood leukocyte number", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-total-leukocyte-count" }, { "slug": "decreased-total-lymphocyte-count", "name": "Decreased blood lymphocyte number", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-total-lymphocyte-count" }, { "slug": "delayed-gross-motor-development", "name": "Delayed motor skills", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/delayed-gross-motor-development" }, { "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": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/generalized-hypotonia" }, { "slug": "giant-platelets", "name": "Giant platelets", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/giant-platelets" }, { "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": "hypergalactosemia", "name": "Hypergalactosemia", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypergalactosemia" }, { "slug": "reticulocytosis", "name": "Increased immature red blood cells", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/reticulocytosis" }, { "slug": "splenomegaly", "name": "Increased spleen size", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/splenomegaly" }, { "slug": "galactosuria", "name": "Increased urinary galactose level", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/galactosuria" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "jaundice", "name": "Jaundice", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/jaundice" }, { "slug": "pancytopenia", "name": "Low blood cell count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pancytopenia" }, { "slug": "decreased-total-neutrophil-count", "name": "Low blood neutrophil count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-total-neutrophil-count" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "anemia", "name": "Low number of red blood cells or hemoglobin", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/anemia" }, { "slug": "thrombocytopenia", "name": "Low platelet count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/thrombocytopenia" }, { "slug": "macrothrombocytopenia", "name": "Macrothrombocytopenia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/macrothrombocytopenia" }, { "slug": "megakaryocyte-dysplasia", "name": "Megakaryocyte dysplasia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/megakaryocyte-dysplasia" }, { "slug": "megakaryocyte-nucleus-hypolobulation", "name": "Megakaryocyte nucleus hypolobulation", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/megakaryocyte-nucleus-hypolobulation" }, { "slug": "mitral-valve-prolapse", "name": "Mitral valve prolapse", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/mitral-valve-prolapse" }, { "slug": "pyloric-stenosis", "name": "Pyloric stenosis", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pyloric-stenosis" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "tricuspid-valve-prolapse", "name": "Tricuspid valve prolapse", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tricuspid-valve-prolapse" }, { "slug": "vomiting", "name": "Vomiting", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/vomiting" } ], "related": [ { "slug": "actb", "symbol": "ACTB", "name": "actin beta", "shared": 1, "url": "https://dantelabs.com/genes/actb" }, { "slug": "actn1", "symbol": "ACTN1", "name": "actinin alpha 1", "shared": 1, "url": "https://dantelabs.com/genes/actn1" }, { "slug": "adamts13", "symbol": "ADAMTS13", "name": "ADAM metallopeptidase with thrombospondin type 1 motif 13", "shared": 1, "url": "https://dantelabs.com/genes/adamts13" }, { "slug": "ankrd26", "symbol": "ANKRD26", "name": "ankyrin repeat domain 26", "shared": 1, "url": "https://dantelabs.com/genes/ankrd26" }, { "slug": "arpc1b", "symbol": "ARPC1B", "name": "actin related protein 2/3 complex subunit 1B", "shared": 1, "url": "https://dantelabs.com/genes/arpc1b" }, { "slug": "cdc42", "symbol": "CDC42", "name": "cell division cycle 42", "shared": 1, "url": "https://dantelabs.com/genes/cdc42" }, { "slug": "cycs", "symbol": "CYCS", "name": "cytochrome c, somatic", "shared": 1, "url": "https://dantelabs.com/genes/cycs" }, { "slug": "diaph1", "symbol": "DIAPH1", "name": "diaphanous related formin 1", "shared": 1, "url": "https://dantelabs.com/genes/diaph1" }, { "slug": "etv6", "symbol": "ETV6", "name": "ETS variant transcription factor 6", "shared": 1, "url": "https://dantelabs.com/genes/etv6" }, { "slug": "fli1", "symbol": "FLI1", "name": "Fli-1 proto-oncogene, ETS transcription factor", "shared": 1, "url": "https://dantelabs.com/genes/fli1" }, { "slug": "fyb1", "symbol": "FYB1", "name": "FYN binding protein 1", "shared": 1, "url": "https://dantelabs.com/genes/fyb1" }, { "slug": "galk1", "symbol": "GALK1", "name": "galactokinase 1", "shared": 1, "url": "https://dantelabs.com/genes/galk1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }