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141 Possible Causes for SCYL1, gene

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  • Cerebellar Atrophy

    Focused exome sequencing revealed he had novel compound heterozygous mutations in AARS2 gene (c.2265dupA; p.Arg756fs and c.650C T; p.Pro217Leu).[ncbi.nlm.nih.gov] We further show that in SCYL1-deficient human fibroblasts, the Golgi apparatus is massively enlarged, which is in line with the concept that SCYL1 regulates Golgi integrity[ncbi.nlm.nih.gov] SLC39A8 is a member of the solute carrier gene family known to import Mn, Zn, and other divalent cations across the plasma membrane.[ncbi.nlm.nih.gov]

  • Paroxysmal Dyskinesia

    PRRT2 gene was initially identified as the major gene responsible for PKD followed by presence of various PRRT2 mutations discovered in families with benign familial infantile[ncbi.nlm.nih.gov] ATP8A2, CA8, CP, CWF19L1, FXN, GOSR2, GRID2, GRM1, HEXA, HEXB, KIAA0226 (RUBCN), KIF1C, MARS2, MRE11A (MRE11), NKX6-2, PLA2G6, PMPCA, PNKP, POLG, PRICKLE1, RNF216, SACS, SCYL1[cegat.de] We previously reported two unrelated boys aged 3 and 8 years with mutations in the thyroid hormone transporter gene MCT8 resulting in severe global retardation and an uncommon[ncbi.nlm.nih.gov]

  • Spinocerebellar Ataxia Type 1

    These ocular changes were considered specific to patients who had the expanded allele of the repeated trinucleotide in the SCA1 gene.[ncbi.nlm.nih.gov] Diseases Spinocerebellar ataxia, autosomal recessive 6 608029 Disease ID 4954 at NIH 's Office of Rare Diseases Spinocerebellar ataxia, autosomal recessive 21 - mutation in SCYL1[en.wikipedia.org] The current transcription map of the 6p22-24 region includes three expressed sequence tags and six genes, one of which is the spinocerebellar ataxia type 1 (SCA1) gene.[ncbi.nlm.nih.gov]

  • Boucher-Neuhauser Syndrome

    However, we did not find any mutations in the PNPLA6 gene in 88 patients with autosomal recessive hereditary spastic paraplegia (ARHSP).[nature.com] Schmidt, W.M., et al., Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and[cordis.europa.eu] RARS, ATP8A2, ATP2B3, CTBP1, CACNA1G, CAMTA1, BEAN1, ATCAY, DOCK3, COL18A1, EBF3, SLC52A2, LAMA1, GRID2, NOL3, PIK3R5, PCNA, DMXL2, PTRH2, ELOVL5, RTN4IP1, RNASEH1, RNF216, SCYL1[mendelian.co]

  • Autosomal Recessive Parkinson Disease 14

    Parkinson disease gene: A gene involved in the causation of Parkinson disease.[medicinenet.com] ATP8A2, CA8, CP, CWF19L1, FXN, GOSR2, GRID2, GRM1, HEXA, HEXB, KIAA0226 (RUBCN), KIF1C, MARS2, MRE11A (MRE11), NKX6-2, PLA2G6, PMPCA, PNKP, POLG, PRICKLE1, RNF216, SACS, SCYL1[cegat.de] Gene-environment Interactions in Parkinson’s Disease April 2, 2014 Paul Barrett, Ph.D.[dana.org]

  • Primary Torsion Dystonia 6

    Identifiers for THAP1 Gene GC08M042432 GC08M042709 GC08M042691 GC08M041214 The protein encoded by this gene contains a THAP domain, a conserved DNA-binding domain.[genecards.org] ATP8A2, CA8, CP, CWF19L1, FXN, GOSR2, GRID2, GRM1, HEXA, HEXB, KIAA0226 (RUBCN), KIF1C, MARS2, MRE11A (MRE11), NKX6-2, PLA2G6, PMPCA, PNKP, POLG, PRICKLE1, RNF216, SACS, SCYL1[cegat.de] 9q34, was the first PTD gene mapped.[jnnp.bmj.com]

  • Iminoglycinuria

    The patient's gene sequences are then compared to a standard reference sequence. Potentially causative variants and areas of low coverage are Sanger-sequenced.[dnalabs.in] RARS, ATP8A2, ATP2B3, CTBP1, CACNA1G, CAMTA1, BEAN1, ATCAY, DOCK3, COL18A1, EBF3, SLC52A2, LAMA1, GRID2, NOL3, PIK3R5, PCNA, DMXL2, PTRH2, ELOVL5, RTN4IP1, RNASEH1, RNF216, SCYL1[mendelian.co] genes.[ncbi.nlm.nih.gov]

  • X-linked Parkinsonism-Spasticity Syndrome

    […] caused by those particular genes.[centogene.com] ATP8A2, CA8, CP, CWF19L1, FXN, GOSR2, GRID2, GRM1, HEXA, HEXB, KIAA0226 (RUBCN), KIF1C, MARS2, MRE11A (MRE11), NKX6-2, PLA2G6, PMPCA, PNKP, POLG, PRICKLE1, RNF216, SACS, SCYL1[cegat.de] Abstract We report a novel gene for a parkinsonian disorder.[ncbi.nlm.nih.gov]

  • Spastic Paraplegia - Ataxia - Mental Retardation

    […] caused by those particular genes.[centogene.com] Schmidt, W.M., et al., Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and[cordis.europa.eu] 3, yeast)-like 2 AFG3 ATPase family gene 3-like 2 (S. cerevisiae) AFG3 ATPase family gene 3-like 2 (yeast) AFG3 ATPase family member 3-like 2 (S. cerevisiae) AFG3-like AAA[ukgtn.nhs.uk]

  • Hirschsprung's Disease

    Of the upregulated genes, 118 were involved in classic signaling pathways, compared with 11 of the downregulated genes (P 0.001; absolute fold change 2‑fold).[ncbi.nlm.nih.gov] CCDC88C, CWF19L1, DNMT1, EEF2, ELOVL4, ELOVL5, FGF14, FMR1, GRID2, GRM1, FXN, IFRD1, ITPR1, KCNC3, KCND3, NOP56, PDYN, PMPCA, POLG, PPP2R2B, PRKCG, RNF216, RUBCN, SACS, SCYL1[bredagenetics.com] Although only half of the patients with HSCR have mutations in specific genes related to early embryonic development, recent pathway-based analysis suggests that gene modules[ncbi.nlm.nih.gov]

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