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159 Possible Causes for RDX, gene

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  • Autosomal Recessive Deafness 24

    Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus.[genecards.org] […] type 24 (RDX) Test Description Deafness autosomal recessive type 24 (RDX) Deafness autosomal recessive type 24 (RDX) genetic dna test for Ear Nose and Throat Diseases testing[dnalabsindia.com] These GJB2 gene mutations have not been reported in Kuwaitis.[karger.com]

  • Deafness, Autosomal Dominant 23

    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] , LRTOMT, MARVELD2, MET, MIR96, MSRB3, MYH14, MYH9, MYO1A, MYO15A, MYO3A, MYO6, MYO7A, NLRP3, OTOA, OTOF, OTOG, P2RX2, PCDH15, PNPT1, POU3F4, POU4F3, PRPS1, PTPRQ, RAI1, RDX[bredagenetics.com] Drosophila 'sine oculis' gene product.[genecards.org]

  • Mitochondrial Non-Syndromic Sensorineural Deafness

    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] , LRTOMT, MARVELD2, MET, MIR96, MSRB3, MYH14, MYH9, MYO1A, MYO15A, MYO3A, MYO6, MYO7A, NLRP3, OTOA, OTOF, OTOG, P2RX2, PCDH15, PNPT1, POU3F4, POU4F3, PRPS1, PTPRQ, RAI1, RDX[bredagenetics.com] The ensemble of all mitochondrial genes is tested if a mitochondrial disorder has to be diagnosed. b' ' Genetests: Related Diseases: References: 1.[moldiag.com]

  • Usher Syndrome Type I

    Based on our results we can conclude there is an absence of hot spot mutations in the MYO7A gene and that this gene plays a major role in Usher syndrome. 2006 Wiley-Liss,[ncbi.nlm.nih.gov] MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NDP, NLRP3, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15, PDZD7, PMP22, PNPT1, POLR1D, POU3F4, POU4F3, PRPS1, PTPRQ, RDX[genedx.com] The nature of the gene defects is unknown, and positional cloning strategies are being employed to identify the genes.[ncbi.nlm.nih.gov]

  • Autosomal Recessive Primary Microcephaly

    It is a rare heterogeneous condition with seven causative genes reported to date.[ncbi.nlm.nih.gov] MT-TL1, MT-TS1, MYH14, MYH9, MYO15A, MYO1A, MYO3A, MYO6, MYO7A, NDP, OPA1, OTOA, OTOF, OTOG, PAX2, PAX3, PCDH15, PDSS1, PDZD7, PHEX, POU3F4, POU4F3, PRPS1, PRRX1, PTPRQ, RDX[e-icm.net] MCPH is genetically heterogeneous with six loci, and four genes have been identified so far.[ncbi.nlm.nih.gov]

  • Usher Syndrome Type 2A

    […] usherin The USH2A gene provides instructions for making a protein called usherin.[ghr.nlm.nih.gov] MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NDP, NLRP3, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15, PDZD7, PMP22, PNPT1, POLR1D, POU3F4, POU4F3, PRPS1, PTPRQ, RDX[genedx.com] Gene view The gene view histogram is a graphical view of mutations across USH2A.[cancer.sanger.ac.uk]

  • Bardet-Biedl Syndrome 2

    (from RefSeq NM_031885) RefSeq Summary (NM_031885): This gene is a member of the Bardet-Biedl syndrome (BBS) gene family.[genome.ucsc.edu] GIPC3, GJB2, GJB3, GJB6, GPSM2, GRXCR1, HGF, ILDR1, KCNJ10, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MSRB3, MYO15A, MYO3A, MYO6, MYO7A, OTOA, OTOF, PCDH15, POU3F4, PRPS1, PTPRQ, RDX[centogene.com] Order single gene BBS2 Order this gene as a single gene test.[invitae.com]

  • Bardet-Biedl Syndrome 10

    (from RefSeq NM_024685) RefSeq Summary (NM_024685): This gene is a member of the Bardet-Biedl syndrome (BBS) gene family.[genome.ucsc.edu] GIPC3, GJB2, GJB3, GJB6, GPSM2, GRXCR1, HGF, ILDR1, KCNJ10, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MSRB3, MYO15A, MYO3A, MYO6, MYO7A, OTOA, OTOF, PCDH15, POU3F4, PRPS1, PTPRQ, RDX[centogene.com] Order single gene BBS10 Order this gene as a single gene test.[invitae.com]

  • Usher Syndrome, Type 3

    The amino acid activation, aminoacylation, and tRNA binding functions were all consistent between the mutation and wild-type genes.[hearinghealthfoundation.org] MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NDP, NLRP3, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15, PDZD7, PMP22, PNPT1, POLR1D, POU3F4, POU4F3, PRPS1, PTPRQ, RDX[genedx.com] RASA2 Noonan syndrome MONDO:0018997 SOP5 Limited 07/24/2018 RASA2 Noonan syndrome-like disorder with loose anagen hair MONDO:0011899 SOP5 No Reported Evidence 06/07/2018 RDX[clinicalgenome.org]

  • Usher Syndrome

    […] usherin The USH2A gene provides instructions for making a protein called usherin.[ghr.nlm.nih.gov] MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NDP, NLRP3, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15, PDZD7, PMP22, PNPT1, POLR1D, POU3F4, POU4F3, PRPS1, PTPRQ, RDX[genedx.com] A few patients were analyzed for both genes.[ncbi.nlm.nih.gov]

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