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217 Possible Causes for GLY127TER, RDH12

  • Leber Congenital Amaurosis

    CONCLUSIONS: Peripapillary sparing is a novel phenotypic feature of RDH12-associated LCA.[ncbi.nlm.nih.gov] We report 2 patients with a clinical phenotype of LCA associated with novel mutations of the RDH12 gene.[ncbi.nlm.nih.gov] Mutation screening revealed a novel p.Gln141* mutation in the AIPL1 gene and a previously described p.Thr49Met mutation in the RDH12 gene in a homozygous state.[ncbi.nlm.nih.gov]

    Missing: GLY127TER
  • Leber Congenital Amaurosis Typ 14

    They’ve connected with a group of U.S. families who are part of the RDH12 Fund for Sight .[sofiasees.org] These genes GUCY2D, RPE65, AIPL1, RPGRIP1, CRB1, CRX, and RDH12 genes were detected with molecular biology techniques.[altiusdirectory.com] Each type is caused by a defect in a different gene important for normal visual function, these genes include RPE65 (LCA 2); AIPL1 (LCA 4); CEP290 (LCA 10) and RDH12 (LCA[moorfields.nhs.uk]

    Missing: GLY127TER
  • Macular Degeneration, Early Onset

    Posted by and Miriam Garcia-Fernandez on Oct 7, 2013 in Hereditary diseases Comments Off on Mutation in the Exon 6 of Gene RDH12 Associated to Severe Early-onset Macular Degeneration[evrs.eu] Poster 4 Joaquin Castro Navarro Advantages: To show the clinical evolution of a child with a novel mutation in exon 6 of gene RDH12 (gene typically associated with Leber[evrs.eu] 152443.2RefSeq), p.Ala269fs and exon 6: c.701G A (NM_152443.2RefSeq), p.Arg234His.Two years later BCVA decreased to Take home message: A novel mutation in exon 6 of gene RDH12[evrs.eu]

    Missing: GLY127TER
  • Leber Congenital Amaurosis Type 9

    These genes GUCY2D, RPE65, AIPL1, RPGRIP1, CRB1, CRX, and RDH12 genes were detected with molecular biology techniques.[altiusdirectory.com] Each type is caused by a defect in a different gene important for normal visual function, these genes include RPE65 (LCA 2); AIPL1 (LCA 4); CEP290 (LCA 10) and RDH12 (LCA[moorfields.nhs.uk] Finley’s Fighters : All of the money raised by Finley’s Fighters goes to the RDH12 Fund for Sight, which exclusively funds new biomedical research for the RDH12 mutation form[wonderbaby.org]

    Missing: GLY127TER
  • Retinal Dystrophy

    […] included previously described mutations in ABCA4 (c.6088C T,p.R2030*; c.5882G A,p.G1961E), BBS2 (c.1895G C,p.R632P), GUCY2D (c.2512C T,p.R838C), PROM1 (c.1117C T,p.R373C), RDH12[ncbi.nlm.nih.gov] GUCY2D (17p13.1), IMPDH1 (7q31.3-q32), IMPG1 (6q14.2-q15), IMPG2 (3q12.2-q12.3), IQCB1 (3q21.1), KCNJ13 (2q37), LCA5 (6q14), LRAT (4q32.1), MERTK (2q14.1), NMNAT1 (1p36.22), RDH12[orpha.net] RESULTS: We identified mutations in 14 known retinal dystrophy genes in 20/26 (77%) families: ABCA4, CERKL, CLN3, CNNM4, C2orf71, IQCB1, LRAT, MERTK, NMNAT1, PCDH15, PDE6B, RDH12[ncbi.nlm.nih.gov]

    Missing: GLY127TER
  • Leber Congenital Amaurosis 16

    […] with RDH12 mutations ( B – D ).[iovs.arvojournals.org] NMNAT1 Leber congenital amaurosis 9 OTX2 Retinal dystrophy, early-onset, with or without pituitary dysfunction; Microphthalmia, syndromic 5 RD3 Leber congenital amaurosis 12 RDH12[asperbio.com] PDE6H, PDZD7, PEX7, PHYH, PIKFYVE, PITPNM3, PITX2, PITX3, PLA2G5, POC1B, PPT1, PRCD, PRDM5, PROM1, PRPF3, PRPF31, PRPF6, PRPF8, PRPH2, PRSS56, RAB28, RAX2, RBP3, RBP4, RD3, RDH12[asperbio.com]

    Missing: GLY127TER
  • Retinitis Pigmentosa 37

    RP panel also contains genes where mutation can cause Leber Congenital Amaurosis (AIPL1, CEP290, CRB1, CRX, GUCY2D, LCA5, LRAT, RD3, RDH12, RPE65, RPGRIP1, SPATA7, and TULP1[bcm.edu] NRL, PCDH15, PDE6A, PDE6B, PDE6G, PEX1, PEX2, PEX26, PEX7, PHYH, PITPNM3, PLA2G5, PRCD, PRKCG, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, RBP3, RBP4, RD3, RDH11, RDH12[fulgentgenetics.com] ), PRCD ( #2465 ), PRKCG ( #2895 ), PROM1 ( #2395 ), PRPF3 ( #2805 ), PRPF31 ( #2795 ), PRPF6 ( #2790 ), PRPF8 ( #2800 ), PRPH2 ( #2935 ), RBP3 ( #2460 ), RD3 ( #2830 ), RDH12[bcm.edu]

    Missing: GLY127TER
  • Progressive Retinal Dystrophy due to Retinol Transport Defect

    ATRal, generated from the 11- cis -Ral photoisomerization, will be reduced to ATRol in rod cytoplasm by RDH8, RDH11, and RDH12.[iovs.arvojournals.org] Genet. 1997 19553623 Limited roles of Rdh8, Rdh12, and Abca4 in all-trans-retinal clearance in mouse retina Maeda, A , Golczak, M , Maeda, T , Palczewski, K Invest.[reactome.org]

    Missing: GLY127TER
  • Amelogenesis Imperfecta Hypomaturation Type IIA5

    601367 (3) PTGDR {Asthma, susceptibility to, 1}, 607277 (3) PTGER2 {Asthma, aspirin-induced, susceptibility to}, 208550 (3) PYGL Glycogen storage disease VI, 232700 (3) RDH12[mendel.medicina.ufmg.br] […] congenital with mental retardation), type B, 2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 PYGL Glycogen storage disease VI RDH12[mendel.medicina.ufmg.br]

    Missing: GLY127TER
  • Retinitis Pigmentosa 9

    Fund For Sight: Focusing on the Cure, visit rdh12.org[theguardian.com] […] of the 15 families who constitute the US-based support group, the RDH12 Fund for Sight.[theguardian.com] The gene in question is called RDH12, and it is responsible for encoding an enzyme that breaks down toxins in the retina.[theguardian.com]

    Missing: GLY127TER

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