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192 Possible Causes for 1 BP, 10573A, DEL,, MYO15A

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  • Mitochondrial Non-Syndromic Sensorineural Deafness

    Effect of MYO15A c. 9948G A using a minigene approach.[journals.plos.org] Del Castillo, M. Sarduy, M. Villamar, A. Mazón, F.[elsevier.es] 17,608) 99.99% 11-50 bps 99.07% (957/966) 99.99% Copy number variants (exon level dels/dups) Clinical samples (small CNVs, n 52) 1 exon level deletion 92.3% (24/26) NA 2[blueprintgenetics.com] : 94, 73 and 23-bp in length.[nature.com]

    Missing: 10573A
  • Autosomal Recessive Deafness 1B

    Two large deletions in GJB6 have been found; del GJB6 -D13S1830 and del GJB6 -D13S1854 (del Castillo et al., 2002, 2003, 2005; Lerer et al., 2001).[audiologyonline.com] 121011.0005 ; DEAFNESS, AUTOSOMAL RECESSIVE, 1; DFNB1 Identified Mutation 1-BP DEL, 35G ; A mutation consisting of deletion of 1 guanine (G) in a run of 6 guanines extending[catalog.coriell.org] For the latter form of deafness, most frequent genes proposed include GJB2, SLC26A4, MYO15A, OTOF, and CDH23 worldwide.[ijbms.mums.ac.ir] 21 bp in size (6/6 variants tested; 95% CI 60.97-100.00%).[personalizedmedicine.partners.org]

    Missing: 10573A
  • Deafness, Autosomal Recessive, Type DFNB1A

    W24X G to A at 71 Trp at 24 into Stop E47X G to T at 139 Glu at 47 into Stop 299–300delAT del of AT at 299 Frameshift 167delT del of T at 167 Frameshift 176–191del16 del[entokey.com] 121011.0005 ; DEAFNESS, AUTOSOMAL RECESSIVE, 1; DFNB1 Identified Mutation 1-BP DEL, 35G ; A mutation consisting of deletion of 1 guanine (G) in a run of 6 guanines extending[catalog.coriell.org] MYO15A Myosin-XV is a protein that in humans is encoded by the MYO15A gene.[howlingpixel.com] […] recessive: CDH23, CLDN14, COL11A2, DFNB31, DFNB59, ESPN, ESRRB, FOXI1, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRXCR1, HGF, ILDR1, KCNJ10, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MSRB3, MYO15A[centogene.com]

    Missing: 10573A
  • Autosomal Recessive Deafness 24

    Two large deletions in GJB6 have been found; del GJB6 -D13S1830 and del GJB6 -D13S1854 (del Castillo et al., 2002, 2003, 2005; Lerer et al., 2001).[audiologyonline.com] 17,608) 99.99% 11-50 bps 99.07% (957/966) 99.99% Copy number variants (exon level dels/dups) Clinical samples (small CNVs, n 52) 1 exon level deletion 92.3% (24/26) NA 2[blueprintgenetics.com] For the latter form of deafness, most frequent genes proposed include GJB2, SLC26A4, MYO15A, OTOF, and CDH23 worldwide.[ijbms.mums.ac.ir] After subcloning and sequencing this transcript, an additional 385 bp of sequence was found at the 3' end of exon 1 [ 4 ].[bmcmedgenet.biomedcentral.com]

    Missing: 10573A
  • Autosomal Recessive Deafness 23

    […] della parete posteriore del faringe, perdita del senso del gusto del terzo posteriore della lingua e deviazione del palato molle verso il lato sano (IX), raucedine per paralisi[slideheaven.com] 21 bp in size (6/6 variants tested; 95% CI 60.97-100.00%).[personalizedmedicine.partners.org] For the latter form of deafness, most frequent genes proposed include GJB2, SLC26A4, MYO15A, OTOF, and CDH23 worldwide.[ijbms.mums.ac.ir] 17,608) 99.99% 11-50 bps 99.07% (957/966) 99.99% Copy number variants (exon level dels/dups) Clinical samples (small CNVs, n 52) 1 exon level deletion 92.3% (24/26) NA 2[blueprintgenetics.com]

    Missing: 10573A
  • Deafness, Autosomal Dominant 23

    GIPC3, GJB2, GJB3, GJB6, GPSM2, GRXCR1, GRHL2, GRIN2A, HGF, HOMER2, ILDR1, KARS, KCNJ10, KCNQ4, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MET, MIR96, MSRB3, MYH14, MYH9, MYO1A, MYO15A[bredagenetics.com] Enfermedad/Phenotype Phenotype MIM number Simbolo del Gen Nombre del Gen Danon disease 300257 LAMP2 lysosomal-associated membrane protein 2 Darier disease 124200 ATP2A2 ATPase[acgen.es] 21 bp in size (6/6 variants tested; 95% CI 60.97-100.00%).[personalizedmedicine.partners.org] Analysis methods PLUS SEQ DEL/DUP Test code EA0201 Panel size Large CPT codes SEQ 81430 DEL/DUP 81431 Summary The Blueprint Genetics Non-Syndromic Hearing Loss Panel (test[blueprintgenetics.com]

    Missing: 10573A
  • Autosomal Recessive Deafness 42

    Other relatively common deafness genes include SLC26A4, MYO15A, OTOF, TMC1, CDH23, and TMPRSS3.[ncbi.nlm.nih.gov] Two large deletions in GJB6 have been found; del GJB6 -D13S1830 and del GJB6 -D13S1854 (del Castillo et al., 2002, 2003, 2005; Lerer et al., 2001).[audiologyonline.com] The amplified fragments of GJB2 gene (809 bp in length) were detected on 1% agarose gel.[jmsjournal.net] […] recessive: CDH23, CLDN14, COL11A2, DFNB31, DFNB59, ESPN, ESRRB, FOXI1, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRXCR1, HGF, ILDR1, KCNJ10, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MSRB3, MYO15A[centogene.com]

    Missing: 10573A
  • Autosomal Recessive Deafness 103

    […] localized and of these fifteen have been cloned. [ edit ] Mutations in the ACTG1 , CABP2 , CDH23 , CLDN14 , COCH , COL11A2 , DFNA5 , ESPN , EYA4 , GJB2 , GJB6 , KCNQ4 , MYO15A[en.wikipedia.org] GENE DEL FATTORE V LEIDEN; SOGGETTI ASINTOMATICI ETEROZIGOTI PER LA SOLA MUTAZIONE G20210A DEL GENE DELLA PROTROMBINA; SOGGETTI OMOZIGOTI PER LA MUTAZIONE C677T DEL GENE[retemalattierare.it] CTNSndinous xanthomatosis 213700 AR 1:70 CYP27 [IVS4 1 1 G 3 A], [1-BP del, FS]227500 AR 1:42 F7 [A244V]editerranean fever 249100 AR 1:7 MEFV [M694V]storage disease III 232400[docslide.us] AD 7 43 MYO3A Deafness AR 8 20 MYO6 Deafness, Deafness, autosomal dominant, 22 AD/AR 21 64 MYO7A Deafness, Usher syndrome, Deafness, autosomal dominant 11 AD/AR 165 491 MYO15A[blueprintgenetics.com]

    Missing: 10573A
  • X-Linked Non-Syndromic Sensorineural Deafness Type DFN

    Analysis methods PLUS SEQ DEL/DUP Test code EA0201 Panel size Large CPT codes SEQ 81430 DEL/DUP 81431 Summary The Blueprint Genetics Non-Syndromic Hearing Loss Panel (test[blueprintgenetics.com] GIPC3, GJB2, GJB3, GJB6, GPSM2, GRXCR1, GRHL2, GRIN2A, HGF, HOMER2, ILDR1, KARS, KCNJ10, KCNQ4, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MET, MIR96, MSRB3, MYH14, MYH9, MYO1A, MYO15A[bredagenetics.com] […] exon (361 AA) 300 Not Identified POU-domain transcription factor Not Identified MTRNR1 12S rRNA 50 % 954 bp 600 MTTS1 tRNA for Ser(UCN) 72 bp 300 GJB2 Connexin 26 2 exons[studyres.com] Moreno-Pelayo, I. del Castillo, F.[elsevier.es]

    Missing: 10573A
  • Autosomal Dominant Deafness 11

    Two large deletions in GJB6 have been found; del GJB6 -D13S1830 and del GJB6 -D13S1854 (del Castillo et al., 2002, 2003, 2005; Lerer et al., 2001).[audiologyonline.com] 17,608) 99.99% 11-50 bps 99.07% (957/966) 99.99% Copy number variants (exon level dels/dups) Clinical samples (small CNVs, n 52) 1 exon level deletion 92.3% (24/26) NA 2[blueprintgenetics.com] GIPC3, GJB2, GJB3, GJB6, GPSM2, GRXCR1, GRHL2, GRIN2A, HGF, HOMER2, ILDR1, KARS, KCNJ10, KCNQ4, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MET, MIR96, MSRB3, MYH14, MYH9, MYO1A, MYO15A[bredagenetics.com] CABP2 , CDC14A , CLDN14 , ELMOD3 , ESPN , ESRRB , GIPC3 , GJB2 , GJB6 , GRXCR1 , GRXCR2 , HGF , ILDR1 , KARS , CEMIP , LHFPL5 , LOXHD1 , LRTOMT , MARVELD2 , MET , MSRB3 , MYO15A[otogenetics.com]

    Missing: 10573A