Panel 18: Deafness


Includes:

All genes associated with deafness, both syndromic as nonsyndromic.

The loss of genetic hearing is caused by mutations in related genes auditioning process. In some cases, hearing loss is due to a combination of genetic and environmental factors. There is, for example, a genetic change that causes some people are more prone to hearing loss after taking certain antibiotics.

Knowledge of the genetic basis of deafness has important benefits. It allows physicians to inform families about the chances of having another child with hearing loss, and can influence treatment.

In the case of deafness syndromic, hearing loss may be accompanied by problems affecting other parts of the body such as the heart, kidneys or eyes and know the genetic cause in these cases, to predict the possible effect these organs.

NMG18: Deafness

Panel 18: Sordera

Included genes:

ABHD12 CCDC50 COL11A1 DFNA5
ACTG1 CDH23 COL11A2 DFNB31
ADCY1 CEACAM16 COL2A1 DFNB59
ANKH CHD7 COL4A3 DFNX3
ATP1A3 CIB2 COL4A4 DIABLO
ATP6V0A4 CISD2 COL4A5 DIAPH1
ATP6V1B1 CLDN14 COL4A6 DNAJC3
BCS1L CLIC5 COL9A1 DNMT1
BDP1 CLPP COL9A2 EDN3
BSND CLRN1 CRYM EDNRB
CABP2 COCH DCDC2 ELMOD3
EPS8 GJB2 HOMER2 LRTOMT
ESPN GJB3 HSD17B4 MARVELD2
ESRRB GJB6 ILDR1 MET
EYA1 GPR98 KARS MITF
EYA4 GPSM2 KCNE1 MSRB3
FAM65B GRHL2 KCNJ10 MYH14
FGFR3 GRXCR1 KCNQ1 MYH9
FKBP14 GRXCR2 KCNQ4 MYO15A
FOXI1 HARS LARS2 MYO3A
GDF6 HARS2 LHFPL5 MYO6
GIPC3 HGF LOXHD1 MYO7A
MYO7A PAX3 RDX SLC33A1
NARS2 PCDH15 SDHD SLITRK6
NDP PDZD7 SEMA3E SMPX
NIPBL PEX1 SERPINB6 SNAI2
OPA1 PNPT1 SIX1 SOX10
OSBPL2 POLR1C SIX5 SPATA5
OTOA POLR1D SLC17A8 STRC
OTOF POU3F4 SLC26A4 SYNE4
OTOG POU4F3 SLC26A4 TBC1D24
OTOGL PRPS1 SLC26A5 TCOF1
P2RX2 PTPRQ TRIOBP TECTA
TIMM8A TMIE TSPEAR VHL
TJP2 TMPRSS3 USH1C WFS1
TMC1 TNC USH1G
TMEM132E TPRN USH2A

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