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Table 1 Patterns of inheritance, genes and number of alterations selected for the panel

From: Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technology

Inheritance

Gene

Locus

No. of selected alterations

OMIM

Transcripts IDs

Autosomal recessive

GJB2

DFNB1

22

121011

NM_004004

 

SLC26A4

DFNB4

14

605646

NM_000441

 

MYO15A

DFNB3

5

602666

NM_016239

 

OTOF

DFNB9

16

603681

NM_194248

 

CDH23

DFNB12

11

605516

NM_022124

 

TMC1

DFNB7/11

4

606706

NM_138691

 

TMPRSS3

DFNB8/10

5

605511

NM_024022

 

TRIOBP

DFNB28

1

609761

NM_001039141

 

TMIE

DFNB6

2

607237

NM_147196

 

DFNB59

DFNB59

1

610219

NM_001042702

Autosomal dominant

GJB2

DFNA3

1

121011

NM_004004

 

WFS1

DFNA6/14

1

606201

NM_006005.3

 

KCNQ4

DFNA2

1

603537

NM_004700

 

COCH

DFNA9

1

603196

NM_004086

 

TECTA

DFNA8/12

4

602574

NM_005422

 

MIR-96

DFNA50

2

613074

NR_029512

Mitochondrial

MT-RNR1

12S rRNA

2

561000

-

 

MT-TS1

tRNASer(UCN)

1

590080

-