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233 Possible Causes for RBM8A, gene

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  • Thrombocytopenia-Absent Radius Syndrome

    […] expression of the RBM8A-encoded Y14 protein ( 4 ).[spandidos-publications.com] Abstract HoxA11 and HoxD11 are homeobox genes critical for normal development of the forearm and thus are potential candidate genes for involvement in the pathogenesis of[bloodjournal.org] […] of the expression of the RBM8A-encoded Y14 protein [ 16 ].[molecularcytogenetics.biomedcentral.com]

  • Hereditary Hypophosphatemic Rickets with Hypercalciuria

    , ARL13B, EVC, EVC2, PIK3CA, COX10, IFT122, PCBD1, APOA1, GREM1, B9D2, LCAT, SLC2A2, GLIS3, EIF2AK3, FGA, VPS33B, FREM1, BMP4, IKZF1, TNFRSF13B, COQ8B, SLC4A1, ATP6V0A4, RBM8A[mendelian.co] DESIGN AND SETTING: Mutation analysis of exons and adjacent introns in the SLC34A3 gene was conducted at an academic research laboratory and medical center.[scholars.duke.edu] DESIGN AND SETTING Mutation analysis of exons and adjacent introns in the SLC34A3 gene was conducted at an academic research laboratory and medical center.[unboundmedicine.com]

  • Severe Combined Immunodeficiency due to Adenosine Deaminase Deficiency

    ( RAC2 ), DOCK8 deficiency ( DOCK8 ), Ataxia telangiectasia ( ATM ), VACTERL association (unknown genes, multiple organ defects), Barth syndrome ( TAZ ), TAR syndrome ( RBM8A[aacc.org] History of gene therapy. Gene , 525 (2), 162-169. Genetics Home Reference National Human Genome Research Institute[fbme.utm.my] […] therapy is strongly linked to the development of gene therapy for severe combined immunodeficiencies (SCID) and especially adenosine deaminase (ADA)-deficient SCID.[dovepress.com]

  • Nephronophthisis 4

    REN Senior-Loken syndrome type 6 CEP290 Senior-Loken syndrome type 7 SDCCAG8 Senior-Loken syndrome type 8 WDR19 SERKAL syndrome WNT4 Thromocytopenia-Absent-Radius-Syndrome RBM8A[centogene.com] Official Symbol NPHP4 provided by HGNC Official Full Name nephrocystin 4 provided by HGNC Primary source HGNC:HGNC:19104 See related Ensembl:ENSG00000131697 MIM:607215 Gene[ncbi.nlm.nih.gov] […] nephrocystin 4 From NCBI Gene : This gene encodes a protein involved in renal tubular development and function.[ghr.nlm.nih.gov]

  • Neuronal Ceroid Lipofuscinosis

    RAB39B RAB3GAP1 RAB3GAP2 RAB40AL RAB7A RAC2 RAD21 RAD50 RAD51 RAD51C RAD51D RAF1 RAG1 RAG2 RAI1 RANBP2 RAPSN RARA RARB RARS2 RASA1 RAX RAX2 RB1 RBBP8 RBCK1 RBM10 RBM20 RBM28 RBM8A[csbg.cnb.csic.es] Two mutations have been described in animal genes (cln8/mnd, CTSD). All mutations in NCL genes are contained in the NCL Mutation Database ().[ncbi.nlm.nih.gov] CLN12 is caused by pathogenic variants in the ATP13A2 gene.[preventiongenetics.com]

  • Frasier Syndrome

    ) T Timothy Syndrome (CACNA1C Single Gene Test) (1 gene) T-cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy (FOXN1 Single Gene Test) (1 gene) TAR Syndrome (RBM8A[fulgentgenetics.com] Abstract The Wilms' tumor suppressor gene, WT1, plays an important role in the development of the urogenital system and also subsequent normal function of this system.[ncbi.nlm.nih.gov] Abstract The Wilms' tumor gene (WT1) encodes a protein that is believed to exert transcriptional and tumor-suppressor activities.[ncbi.nlm.nih.gov]

  • Usher Syndrome Type 1D

    Panel NGS 20 genes: F8, F9, VWF, F2, F5, FGA, FGB, FGG, GP1BA, WAS, ENG, ACVRL1, SMAD4, LYST, RBM8A, GATA1, MYH9, GALT, RASA1, ADAMTS13 Ventrículo izquierdo no compactado[e-icm.net] الصفحة 108 - Mutation in mitochondrial tRNAIeu (UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat. Genet. ‏[books.google.com] So far, six loci (USH1A-USH1F) have been mapped, but only two USH1 genes have been identified: MYO7A for USH1B and the gene encoding harmonin for USH1C.[ncbi.nlm.nih.gov]

  • Hypophosphatemic Rickets

    , ARL13B, EVC, EVC2, PIK3CA, COX10, IFT122, PCBD1, APOA1, GREM1, B9D2, LCAT, SLC2A2, GLIS3, EIF2AK3, FGA, VPS33B, FREM1, BMP4, IKZF1, TNFRSF13B, COQ8B, SLC4A1, ATP6V0A4, RBM8A[mendelian.co] RESULTS: Sequencing of all coding exons and exon-intron junctions of DMP1 and FGF23 genes showed no mutation.[ncbi.nlm.nih.gov] The PHEX gene (phosphate regulating gene with homologies to endopeptidases on the X chromosome) encodes a 749-amino acid protein that putatively consists of an intracellular[ncbi.nlm.nih.gov]

  • Holt Oram Syndrome

    FGFR1, FGFR2, FGFR3, GDF5, GLI3, GNAS, HDAC4, HDAC8, HOXD13, IHH, KIF7, KMT2A, LBX1, LMBR1, LRP4, MGP, MKS1, MYCN, NIPBL, NOG, NOTCH1, NSDHL, PHF6, PIGV, POLL, PTHLH, RAD21, RBM8A[genedx.com] We report that KLF13 interacts physically and functionally with TBX5 to synergistically activate transcription of cardiac genes.[ncbi.nlm.nih.gov] […] in cardiac diseases or syndromes among which SALL4 has been reported as HOS related gene.[ncbi.nlm.nih.gov]

  • Boucher-Neuhauser Syndrome

    SLC20A2, FBXO7, EARS2, DRD2, SLC6A3, PCBD1, APOA1, B9D2, ABCA1, PTF1A, VPS35, GP1BA, A2M, FGA, MYO5A, VIPAS39, CD36, VAX1, FREM1, ALX1, B3GLCT, PIK3R2, AKT3, AKT1, SLC4A1, RBM8A[mendelian.co] However, we did not find any mutations in the PNPLA6 gene in 88 patients with autosomal recessive hereditary spastic paraplegia (ARHSP).[nature.com] Test Description Order Options: Sequencing Del/Dup Rush / STAT Exclude VUS MCC Duo/Trio Turnaround Time: 3 - 5 weeks Cost: Call for details Genes: PNPLA6 ( 1 gene ) Coverage[fulgentgenetics.com]

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