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Table 1 Tier 1 and tier 2 genes included in the OTOgenics™ panel (v3)

From: Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients

Tier 1 (154 genes): genes with strong/moderate association with SNHL#

 ABHD12

BSND

CLRN1

DIABLO

FTO

HSD17B4

MARVELD2

MYO3A

P2RX2

PTPN11

SLC52A3

TMIE

  NM_001042472.2

NM_057176.2

NM_174878.2

NM_019887.5

NM_001080432.2

NM_000414.3

NM_001038603.2

NM_017433.4

NM_174873.2

NM_002834.3

NM_033409.3

NM_147196.2

 ACTB

CABP2

COCH

DIAPH1

GATA3

ILDR1

MASP1

MYO6

PAX3

PTPRQ

SLITRK6

TMPRSS3

  NM_001101.3

NM_016366.2

NM_004086.2

NM_005219.4

NM_001002295.1

NM_001199799.1

NM_139125.3

NM_004999.3

NM_181457.3

NM_001145026.1

NM_032229.2

NM_024022.2

 ACTG1

CACNA1D

COL2A1

DNMT1

GIPC3

KARS

MIR96

MYO7A

PCDH15

RAF1

SMPX

TPRN

  NM_001614.3

NM_000720.3

NM_001844.4

NM_001130823.1

NM_133261.2

NM_001130089.1

NR_029512.1

NM_000260.3

NM_033056.3

NM_002880.3

NM_014332.2

NM_001128228.2

 ADGRV1

CCDC50

COL4A3

ECHS1

GJB2

KCNE1

MITF

MYO15A

PDZD7

RDX

SNAI2

TRIOBP

  NM_032119.3

NM_178335.2

NM_000091.4

NM_004092.3

NM_004004.5

NM_000219.5

NM_000248.3

NM_016239.3

NM_001195263.1

NM_002906.3

NM_003068.4

NM_001039141.2

 AIFM1

CDH23

COL4A4

EDN3

GJB3

KCNJ10

MSRB3

NARS2

PEX1

RMND1

SOX10

TSPEAR

  NM_004208.3

NM_022124.5

NM_000092.4

NM_207034.2

NM_024009.2

NM_002241.4

NM_198080.3

NM_024678.5

NM_000466.2

NM_017909.3

NM_006941.3

NM_144991.2

 ALMS1

CEACAM16

COL4A5

EDNRB

GJB6

KCNQ1

MT-CO1

NDP

PEX2

SERAC1

SPATA5

USH1C

  NM_015120.4

NM_001039213.3

NM_000495.4

NM_000115.3

NM_006783.4

NM_000218.2

NC_012920.1

NM_000266.3

NM_000318.2

NM_032861.3

NM_145207.2

NM_005709.3

 ANKH

CHD7

COL9A1

EPS8L2

GPSM2

KCNQ4

MT-RNR1

NLRP3

PEX3

SERPINB6

STRC

USH1G

  NM_054027.4

NM_017780.3

NM_001851.4

NM_022772.3

NM_013296.4

NM_004700.3

NC_012920.1

NM_004895.4

NM_003630.2

NM_004568.5

NM_153700.2

NM_173477.4

 AP1S1

CIB2

COL11A1

ESPN

GRHL2

LARS2

MT-TH

OPA1

PEX5

SIX1

SYNE4

USH2A

  NM_001283.3

NM_006383.3

NM_001854.3

NM_031475.2

NM_024915.3

NM_015340.3

NC_012920.1

NM_015560.2

NM_001131025.1

NM_005982.3

NM_001039876.1

NM_206933.2

 ATP1A3

CISD2

COL11A2

ESRRB

GRXCR1

LHFPL5

MT-TK

OSBPL2

PEX6

SLC17A8

TBC1D24

WFS1

  NM_152296.4

NM_001008388.4

NM_080680.2

NM_004452.3

NM_001080476.2

NM_182548.3

NC_012920.1

NM_144498.2

NM_000287.3

NM_139319.2

NM_001199107.1

NM_006005.3

 ATP6V1B1

CLCNKA

DCAF17

EYA1

HARS2

LHX3

MT-TL1

OTOA

PEX26

SLC19A2

TECTA

WHRN

  NM_001692.3

NM_004070.3

NM_025000.3

NM_000503.5

NM_012208.3

NM_014564.3

NC_012920.1

NM_144672.3

NM_017929.5

NM_006996.2

NM_005422.2

NM_015404.3

 BCAP31

CLCNKB

DDX11

EYA4

HGF

LOXHD1

MT-TS1

OTOF

POU3F4

SLC26A4

TIMM8A

XYLT2

  NM_001139441.1

NM_000085.4

NM_030653.3

NM_004100.4

NM_000601.4

NM_144612.6

NC_012920.1

NM_194248.2

NM_000307.4

NM_000441.1

NM_004085.3

NM_022167.3

 BCS1L

CLDN14

DFNA5

FGF3

HOXA1

LRP2

MYH9

OTOG

POU4F3

SLC33A1

TJP2

 

  NM_004328.4

NM_144492.2

NM_004403.2

NM_005247.2

NM_005522.4

NM_004525.2

NM_002473.5

NM_001277269.1

NM_002700.2

NM_004733.3

NM_004817.3

 

 BRAF

CLPP

DFNB59

FGFR3

HOXB1

LRTOMT

MYH14

OTOGL

PRPS1

SLC52A2

TMC1

 

  NM_004333.4

NM_006012.2

NM_001042702.3

NM_000142.4

NM_002144.3

NM_001145308.4

NM_024729.3

NM_173591.3

NM_002764.3

NM_024531.4

NM_138691.2

 

Tier 2 (45 genes): genes with weak/preliminary association with SNHL#

 ADCY1

COL4A6

CRYM

ELMOD3

FGFR1

GTF2IRD1

KITLG

MT-CO3

NDUFA13

SIX5

TK2

TP63

  NM_021116.2

NM_001847.3

NM_001888.4

NM_032213.4

NM_023110.2

NM_016328.2

NM_000899.4

NC_012920.1

NM_015965.6

NM_175875.4

NM_004614.4

NM_003722.4

 ATP2B2

COL9A2

DCDC2

EPS8

FGFR2

HMX2

MAF

MT-TA

NFIX

SLC4A11

TMEM132E

 

  NM_001683.3

NM_001852.3

NM_016356.4

NM_004447.5

NM_000141.4

NM_005519.1

NM_005360.4

NC_012920.1

NM_001271043.2

NM_032034.3

NM_001304438.1

 

 ATP6V1B2

COL9A3

DIAPH3

FAM65B

FOXI1

HMX3

MARS2

MT-TE

PNPT1

SLC9A1

TMPRSS5

 

  NM_001693.3

NM_001853.3

NM_001042517.1

NM_014722.3

NM_012188.4

NM_001105574.1

NM_138395.3

NC_012920.1

NM_033109.4

NM_003047.4

NM_030770.3

 

 BDP1

COQ6

DSPP

FBLN1

GRXCR2

HOMER2

MCM2

MT-TS2

SEMA3E

SLC26A5

TNC

 

  NM_018429.2

NM_182476.2

NM_014208.3

NM_006486.2

NM_001080516.1

NM_004839.3

NM_004526.3

NC_012920.1

NM_012431.2

NM_198999.2

NM_002160.3

 
  1. #Sensorineural hearing loss