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"ensemblId": "ENSG00000185000", "biotype": "protein_coding", "start": 144314584, "end": 144326916, "strand": "-", "slug": "dgat1" }, { "symbol": "SCRT1", "ensemblId": "ENSG00000261678", "biotype": "protein_coding", "start": 144330565, "end": 144336503, "strand": "-", "slug": "scrt1" }, { "symbol": "CATSPERQ", "ensemblId": "ENSG00000261587", "biotype": "protein_coding", "start": 144352219, "end": 144354954, "strand": "-", "slug": "catsperq" }, { "symbol": "", "ensemblId": "ENSG00000271698", "biotype": "protein_coding", "start": 144353228, "end": 144355609, "strand": "-" }, { "symbol": "FBXL6", "ensemblId": "ENSG00000182325", "biotype": "protein_coding", "start": 144355427, "end": 144359376, "strand": "-", "slug": "fbxl6" }, { "symbol": "ADCK5", "ensemblId": "ENSG00000173137", "biotype": "protein_coding", "start": 144373101, "end": 144393243, "strand": "+", "slug": "adck5" }, { "symbol": "CPSF1", "ensemblId": "ENSG00000071894", "biotype": "protein_coding", "start": 144393229, "end": 144409864, "strand": "-", "slug": "cpsf1" }, { "symbol": "SLC39A4", "ensemblId": "ENSG00000147804", "biotype": "protein_coding", "start": 144409742, "end": 144416894, "strand": "-", "slug": "slc39a4" }, { "symbol": "VPS28", "ensemblId": "ENSG00000160948", "biotype": "protein_coding", "start": 144423597, "end": 144429499, "strand": "-", "slug": "vps28" }, { "symbol": "TONSL", "ensemblId": "ENSG00000160949", "biotype": "protein_coding", "start": 144428763, "end": 144444488, "strand": "-", "slug": "tonsl" }, { "symbol": "ZFTRAF1", "ensemblId": "ENSG00000187954", "biotype": "protein_coding", "start": 144447345, "end": 144462908, "strand": "-", "slug": "zftraf1" }, { "symbol": "TMEM276-ZFTRAF1", "ensemblId": "ENSG00000291316", "biotype": "protein_coding", "start": 144449582, "end": 144465430, "strand": "-", "slug": "tmem276-zftraf1" }, { "symbol": "TMEM276", "ensemblId": "ENSG00000291317", "biotype": "protein_coding", "start": 144463817, "end": 144466890, "strand": "-", "slug": "tmem276" }, { "symbol": "KIFC2", "ensemblId": "ENSG00000167702", "biotype": "protein_coding", "start": 144465940, "end": 144474202, "strand": "+", "slug": "kifc2" }, { "symbol": "FOXH1", "ensemblId": "ENSG00000160973", "biotype": "protein_coding", "start": 144473412, "end": 144475873, "strand": "-", "slug": "foxh1" }, { "symbol": "PPP1R16A", "ensemblId": "ENSG00000160972", "biotype": "protein_coding", "start": 144475989, "end": 144502126, "strand": "+", "slug": "ppp1r16a" }, { "symbol": "GPT", "ensemblId": "ENSG00000167701", "biotype": "protein_coding", "start": 144502608, "end": 144507494, "strand": "+", "slug": "gpt" }, { "symbol": "SLC33A2", "ensemblId": "ENSG00000167700", "biotype": "protein_coding", "start": 144508263, "end": 144511317, "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" }, { "symbol": "ZNF251", "ensemblId": "ENSG00000198169", "biotype": "protein_coding", "start": 144720515, "end": 144756417, "strand": "-", "slug": "znf251" }, { "symbol": "ZNF34", "ensemblId": "ENSG00000196378", "biotype": "protein_coding", "start": 144770441, "end": 144788684, "strand": "-", "slug": "znf34" }, { "symbol": "RPL8", "ensemblId": "ENSG00000161016", "biotype": "protein_coding", "start": 144789765, "end": 144793502, "strand": "-", "slug": "rpl8" }, { "symbol": "ZNF517", "ensemblId": "ENSG00000197363", "biotype": "protein_coding", "start": 144798863, "end": 144813034, "strand": "+", "slug": "znf517" }, { "symbol": "ZNF7", "ensemblId": "ENSG00000147789", "biotype": "protein_coding", "start": 144826894, "end": 144848546, "strand": "+", "slug": "znf7" }, { "symbol": "COMMD5", "ensemblId": "ENSG00000170619", "biotype": "protein_coding", "start": 144837760, "end": 144854229, "strand": "-", "slug": "commd5" } ], "truncated": false }, "reports": [ { "slug": "riboflavin-transporter-deficiency", "name": "Riboflavin Transporter Deficiency", "diseases": [ { "mondoId": "MONDO:0008891", "name": "Riboflavin Transporter Deficiency", "genes": 2, "inheritance": "autosomal-recessive", "description": "A neuronopathy caused by biallelic variants in SLC52A2 or SLC52A3, with sensorineural hearing loss, bulbar palsy, optic atrophy and respiratory weakness.", "management": "High-dose oral riboflavin can improve outcomes, especially when started early.", "evidence": { "gencc": [ "ClinGen", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/hu/conditions/riboflavin-transporter-deficiency" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "areflexia", "name": "Absent reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/areflexia" }, { "slug": "aggressive-behavior", "name": "Aggressive behavior", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aggressive-behavior" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "facial-palsy", "name": "Bell's palsy", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/facial-palsy" }, { "slug": "bulbar-palsy", "name": "Bulbar palsy", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/bulbar-palsy" }, { "slug": "clumsiness", "name": "Clumsiness", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/clumsiness" }, { "slug": "cranial-nerve-paralysis", "name": "Cranial nerve paralysis", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/cranial-nerve-paralysis" }, { "slug": "hypokinesia", "name": "Decreased muscle movement", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/hypokinesia" }, { "slug": "generalized-amyotrophy", "name": "Diffuse skeletal muscle wasting", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/generalized-amyotrophy" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/generalized-hypotonia" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "kyphoscoliosis", "name": "Kyphoscoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/kyphoscoliosis" }, { "slug": "limb-muscle-weakness", "name": "Limb muscle weakness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/limb-muscle-weakness" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "neck-muscle-weakness", "name": "Neck muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/neck-muscle-weakness" }, { "slug": "sensorimotor-neuropathy", "name": "Nerve damage causing decreased feeling and movement", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/sensorimotor-neuropathy" }, { "slug": "optic-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/optic-atrophy" }, { "slug": "organic-aciduria", "name": "Organic aciduria", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/organic-aciduria" }, { "slug": "dysphagia", "name": "Poor swallowing", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dysphagia" }, { "slug": "respiratory-insufficiency", "name": "Respiratory function loss", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/respiratory-insufficiency" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "split-hand", "name": "Split hand", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/split-hand" }, { "slug": "tongue-fasciculations", "name": "Tongue twitching", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/tongue-fasciculations" }, { "slug": "visual-loss", "name": "Visual loss", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/visual-loss" } ], "related": [ { "slug": "slc52a3", "symbol": "SLC52A3", "name": "solute carrier family 52 member 3", "shared": 1, "url": "https://dantelabs.com/hu/genes/slc52a3" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }