{ "url": "https://dantelabs.com/ro/genes/rfc1", "gene": { "slug": "rfc1", "symbol": "RFC1", "name": "replication factor C subunit 1", "hgnc": "HGNC:9969", "summary": null, "location": "4p14", "locusType": "gene with protein product", "aliases": [ "A1", "PO-GA", "RFC140", "MHCBFB" ], "previousSymbols": [], "ensemblId": "ENSG00000035928", "entrezId": 5981, "omim": [ "102579" ], "uniprot": [ "P35251" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "4", "start": 39287456, "end": 39366362, "strand": "-", "ensemblTranscript": "ENST00000349703.7", "refseqTranscript": "NM_002913.5", "ensemblProtein": "ENSP00000261424.4", "refseqProtein": "NP_002904.3", "exons": [ { "start": 39287456, "end": 39288844 }, { "start": 39289848, "end": 39290039 }, { "start": 39291639, "end": 39291852 }, { "start": 39295614, "end": 39295759 }, { "start": 39300021, "end": 39300138 }, { "start": 39300260, "end": 39300414 }, { "start": 39302278, "end": 39302376 }, { "start": 39302500, "end": 39302595 }, { "start": 39302737, "end": 39302874 }, { "start": 39303060, "end": 39303151 }, { "start": 39304814, "end": 39304928 }, { "start": 39306592, "end": 39306701 }, { "start": 39308636, "end": 39309032 }, { "start": 39311445, "end": 39311549 }, { "start": 39312752, "end": 39312931 }, { "start": 39316915, "end": 39317022 }, { "start": 39320383, "end": 39320669 }, { "start": 39321287, "end": 39321374 }, { "start": 39323340, "end": 39323417 }, { "start": 39326563, "end": 39326640 }, { "start": 39327524, "end": 39327756 }, { "start": 39342345, "end": 39342467 }, { "start": 39345401, "end": 39345476 }, { "start": 39351348, "end": 39351476 }, { "start": 39366239, "end": 39366362 } ], "cds": { "start": 39288761, "end": 39366241 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "4", "start": 39289076, "end": 39367995, "strand": "-" }, "neighbourhood": { "release": "116", "start": 38826909, "end": 39826908, "genes": [ { "symbol": "TLR1", "ensemblId": "ENSG00000174125", "biotype": "protein_coding", "start": 38787555, "end": 38856817, "strand": "-", "slug": "tlr1" }, { "symbol": "TLR6", "ensemblId": "ENSG00000174130", "biotype": "protein_coding", "start": 38822897, "end": 38856901, "strand": "-", "slug": "tlr6" }, { "symbol": "FAM114A1", "ensemblId": "ENSG00000197712", "biotype": "protein_coding", "start": 38867677, "end": 38945740, "strand": "+", "slug": "fam114a1" }, { "symbol": "TMEM156", "ensemblId": "ENSG00000121895", "biotype": "protein_coding", "start": 38965999, "end": 39032922, "strand": "-", "slug": "tmem156" }, { "symbol": "KLHL5", "ensemblId": "ENSG00000109790", "biotype": "protein_coding", "start": 39044613, "end": 39126857, "strand": "+", "slug": "klhl5" }, { "symbol": "WDR19", "ensemblId": "ENSG00000157796", "biotype": "protein_coding", "start": 39182463, "end": 39285810, "strand": "+", "slug": "wdr19" }, { "symbol": "KLB", "ensemblId": "ENSG00000134962", "biotype": "protein_coding", "start": 39406896, "end": 39451533, "strand": "+", "slug": "klb" }, { "symbol": "RPL9", "ensemblId": "ENSG00000163682", "biotype": "protein_coding", "start": 39450679, "end": 39472424, "strand": "-", "slug": "rpl9" }, { "symbol": "LIAS", "ensemblId": "ENSG00000121897", "biotype": "protein_coding", "start": 39459004, "end": 39485109, "strand": "+", "slug": "lias" }, { "symbol": "UGDH", "ensemblId": "ENSG00000109814", "biotype": "protein_coding", "start": 39498755, "end": 39528311, "strand": "-", "slug": "ugdh" }, { "symbol": "SMIM14", "ensemblId": "ENSG00000163683", "biotype": "protein_coding", "start": 39546336, "end": 39639092, "strand": "-", "slug": "smim14" }, { "symbol": "UBE2K", "ensemblId": "ENSG00000078140", "biotype": "protein_coding", "start": 39697879, "end": 39782792, "strand": "+", "slug": "ube2k" }, { "symbol": "PDS5A", "ensemblId": "ENSG00000121892", "biotype": "protein_coding", "start": 39822863, "end": 39977993, "strand": "-", "slug": "pds5a" } ], "truncated": false }, "reports": [ { "slug": "hereditary-sensory-and-autonomic-neuropathies", "name": "Neuropatii senzitive și autonome ereditare (inclusiv disautonomia familială)", "diseases": [ { "mondoId": "MONDO:0015364", "name": "Neuropatie senzitivă și autonomă ereditară", "genes": 21, "inheritance": null, "description": "Un grup de neuropatii, inclusiv disautonomia familială (ELP1), HSAN1 (SPTLC1/SPTLC2), HSAN2 (WNK1, RETREG1) și insensibilitatea congenitală la durere (NTRK1, SCN9A, PRDM12). Majoritatea sunt recesive, în timp ce HSAN1 este dominantă.", "management": "Protecție împotriva rănilor, arsurilor și infecțiilor nedetectate, gestionarea simptomelor autonome și testarea de purtător pentru rude (disautonomia familială este inclusă în screeningul de purtător pentru persoanele de origine evreiască ashkenazi).", "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/ro/conditions/hereditary-sensory-and-autonomic-neuropathies" }, { "slug": "autosomal-recessive-cerebellar-ataxias", "name": "Ataxii cerebeloase autosomal recesive (inclusiv CANVAS și AVED)", "diseases": [ { "mondoId": "MONDO:0015244", "name": "Ataxie cerebeloasă autosomal recesivă", "genes": 57, "inheritance": "autosomal-recessive", "description": "Un grup de ataxii cu transmitere recesivă, cauzate de variante bialelice în gene precum RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 și SYNE1.", "management": "Ataxia cu deficit de vitamina E (TTPA) poate fi tratată cu suplimente de vitamina E; celelalte forme sunt gestionate prin kinetoterapie și îngrijire simptomatică, iar rudelor pot fi oferite teste de purtător.", "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/ro/conditions/autosomal-recessive-cerebellar-ataxias" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-autonomic-nervous-system-physiology", "name": "Abnormal autonomic nervous system physiology", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-autonomic-nervous-system-physiology" }, { "slug": "abnormal-rapid-eye-movement-sleep", "name": "Abnormal rapid eye movement sleep", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-rapid-eye-movement-sleep" }, { "slug": "absent-achilles-reflex", "name": "Absent ankle reflexes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/absent-achilles-reflex" }, { "slug": "areflexia", "name": "Absent reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/areflexia" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "axonal-loss", "name": "Axonal loss", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/axonal-loss" }, { "slug": "babinski-sign", "name": "Babinski sign", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/babinski-sign" }, { "slug": "postural-instability", "name": "Balance impairment", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/postural-instability" }, { "slug": "cerebellar-vermis-atrophy", "name": "Cerebellar vermis atrophy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/cerebellar-vermis-atrophy" }, { "slug": "cough", "name": "Cough", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cough" }, { "slug": "decreased-distal-sensory-nerve-action-potential", "name": "Decreased distal sensory nerve action potential", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-distal-sensory-nerve-action-potential" }, { "slug": "hyporeflexia", "name": "Decreased reflex response", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyporeflexia" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/cerebellar-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": "demyelinating-peripheral-neuropathy", "name": "Demyelinating peripheral neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/demyelinating-peripheral-neuropathy" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "dysdiadochokinesis", "name": "Difficulty performing quick and alternating movements", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysdiadochokinesis" }, { "slug": "downbeat-nystagmus", "name": "Downbeat nystagmus", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/downbeat-nystagmus" }, { "slug": "gaze-evoked-nystagmus", "name": "Gaze-evoked nystagmus", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/gaze-evoked-nystagmus" }, { "slug": "impaired-horizontal-smooth-pursuit", "name": "Impaired horizontal smooth pursuit", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/impaired-horizontal-smooth-pursuit" }, { "slug": "impaired-pain-sensation", "name": "Impaired pain sensation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/impaired-pain-sensation" }, { "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": "gait-ataxia", "name": "Inability to coordinate movements when walking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/gait-ataxia" }, { "slug": "intention-tremor", "name": "Intention tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/intention-tremor" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "dysmetria", "name": "Lack of coordination of movement", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysmetria" }, { "slug": "limb-ataxia", "name": "Limb ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/limb-ataxia" }, { "slug": "multiple-joint-contractures", "name": "Multiple joint contractures", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/multiple-joint-contractures" }, { "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": "optic-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/optic-atrophy" }, { "slug": "peripheral-neuropathy", "name": "Peripheral neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/peripheral-neuropathy" }, { "slug": "positive-romberg-sign", "name": "Positive Romberg sign", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/positive-romberg-sign" }, { "slug": "progressive-cerebellar-ataxia", "name": "Progressive cerebellar ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/progressive-cerebellar-ataxia" }, { "slug": "saccadic-smooth-pursuit-interruptions", "name": "Saccadic smooth pursuit interruptions", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/saccadic-smooth-pursuit-interruptions" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "vestibular-areflexia", "name": "Vestibular areflexia", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/vestibular-areflexia" }, { "slug": "distal-muscle-weakness", "name": "Weakness of outermost muscles", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/distal-muscle-weakness" } ], "related": [ { "slug": "ahi1", "symbol": "AHI1", "name": "Abelson helper integration site 1", "shared": 1, "url": "https://dantelabs.com/ro/genes/ahi1" }, { "slug": "aifm1", "symbol": "AIFM1", "name": "apoptosis inducing factor mitochondria associated 1", "shared": 1, "url": "https://dantelabs.com/ro/genes/aifm1" }, { "slug": "ano10", "symbol": "ANO10", "name": "anoctamin 10", "shared": 1, "url": "https://dantelabs.com/ro/genes/ano10" }, { "slug": "atcay", "symbol": "ATCAY", "name": "ATCAY kinesin light chain interacting caytaxin", "shared": 1, "url": "https://dantelabs.com/ro/genes/atcay" }, { "slug": "atg7", "symbol": "ATG7", "name": "autophagy related 7", "shared": 1, "url": "https://dantelabs.com/ro/genes/atg7" }, { "slug": "atl1", "symbol": "ATL1", "name": "atlastin GTPase 1", "shared": 1, "url": "https://dantelabs.com/ro/genes/atl1" }, { "slug": "atl3", "symbol": "ATL3", "name": "atlastin GTPase 3", "shared": 1, "url": "https://dantelabs.com/ro/genes/atl3" }, { "slug": "atp8a2", "symbol": "ATP8A2", "name": "ATPase phospholipid transporting 8A2", "shared": 1, "url": "https://dantelabs.com/ro/genes/atp8a2" }, { "slug": "ca8", "symbol": "CA8", "name": "carbonic anhydrase 8 (inactive)", "shared": 1, "url": "https://dantelabs.com/ro/genes/ca8" }, { "slug": "cc2d2a", "symbol": "CC2D2A", "name": "coiled-coil and C2 domain containing 2A", "shared": 1, "url": "https://dantelabs.com/ro/genes/cc2d2a" }, { "slug": "cep290", "symbol": "CEP290", "name": "centrosomal protein 290", "shared": 1, "url": "https://dantelabs.com/ro/genes/cep290" }, { "slug": "cep41", "symbol": "CEP41", "name": "centrosomal protein 41", "shared": 1, "url": "https://dantelabs.com/ro/genes/cep41" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }