Gene symbol | OMIM | SQM scoring* | Genomics England PanelApp | Phenotype | Variant information |
---|
DIAPH1 | 124900 | N/A | | DFNA1 (AD) | https://omim.org/allelicVariants/602121 |
KCNQ4 | 600101 | N/A | | DFNA2A (AD) | https://omim.org/allelicVariants/603537 |
GJB3 | 612644 | N/A | | DFNA2B (AD) | https://omim.org/allelicVariants/603324 |
GJB2 | 601544 | N/A | | DFNA3A (AD) | https://omim.org/allelicVariants/121011 |
GJB6 | 612643 | N/A | | DFNA3B (AD) | https://omim.org/allelicVariants/604418 |
MYH14 | 600652 | N/A | | DFNA4A (AD) | https://omim.org/allelicVariants/608568 |
CEACAM16 | 614614 | N/A | | DFNA4B (AD) | https://omim.org/allelicVariants/614591 |
GSDME (DFNA5) | 600994 | N/A | | DFNA5 (AD) | https://omim.org/allelicVariants/608798 |
WFS1 | 600965 | N/A | | DFNA6/14/38 (AD) | https://omim.org/allelicVariants/606201 |
LMX1A | 601412 | N/A | | DFNA7 (AD) | https://omim.org/allelicVariants/600298 |
TECTA | 601543 | 10NB (P) | | DFNA8/12 (AD) | https://omim.org/allelicVariants/602574 |
COCH | 601369 | N/A | | DFNA9 (AD) | https://omim.org/allelicVariants/603196 |
EYA4 | 601316 | N/A | | DFNA10 (AD) | https://omim.org/allelicVariants/603550 |
MYO7A | 601317 | N/A | | DFNA11 (AD) | https://omim.org/allelicVariants/276903 |
COL11A2 | 601868 | N/A | | DFNA13 (AD) | https://omim.org/allelicVariants/120290 |
POU4F3 | 602459 | N/A | | DFNA15 (AD) | https://omim.org/allelicVariants/602460 |
MYH9 | 603622 | N/A | | DFNA17 (AD) | https://omim.org/allelicVariants/160775 |
ACTG1 | 604717 | N/A | | DFNA20/26 (AD) | https://omim.org/allelicVariants/102560 |
MYO6 | 606346 | 10NB (P) | | DFNA22 (AD) | https://omim.org/allelicVariants/600970 |
SIX1 | 605192 | N/A | | DFNA23 (AD) | https://omim.org/allelicVariants/601205 |
SLC17A8 | 605583 | N/A | | DFNA25 (AD) | https://omim.org/allelicVariants/607557 |
REST | 612431 | N/A | | DFNA27 (AD) | https://omim.org/allelicVariants/600571 |
GRHL2 | 608641 | N/A | | DFNA28 (AD) | https://omim.org/allelicVariants/608576 |
NLRP3 | 617772 | N/A | | DFNA34 (AD) | https://omim.org/allelicVariants/606416 |
TMC1 | 606705 | N/A | | DFNA36 (AD) | https://omim.org/allelicVariants/606706 |
COL11A1 | 618533 | N/A | | DFNA37 (AD) | https://omim.org/allelicVariants/120280 |
DSPP | 605594 | N/A | | DFNA39, with dentinogenesis (AD) | https://omim.org/allelicVariants/125485 |
CRYM | 616357 | N/A | | DFNA40 (AD) | https://omim.org/allelicVariants/123740 |
P2RX2 | 608224 | N/A | | DFNA41 (AD) | https://omim.org/allelicVariants/600844 |
CCDC50 | 607453 | N/A | | DFNA44 (AD) | https://omim.org/allelicVariants/611051 |
MYO1A (DFNA48) | 607841 | N/A | | DFNA48 (AD) | N/A |
MIR96 | 613074 | N/A | | DFNA50 (AD) | https://omim.org/allelicVariants/611606 |
TJP2 (DFNA51) | 613558 | N/A | | DFNA51 (AD) | N/A |
POU4F3 (DFNA52) | 607683 | N/A | | DFNA52 (AD) | N/A |
TNC | 615629 | N/A | | DFNA56 (AD) | https://omim.org/allelicVariants/187380 |
DIABLO | 614152 | N/A | | DFNA64 (AD) | https://omim.org/allelicVariants/605219 |
TBC1D24 | 616044 | N/A | | DFNA65 (AD) | https://omim.org/allelicVariants/613577 |
CD164 | 616969 | N/A | | DFNA66 (AD) | https://omim.org/allelicVariants/603356 |
OSBPL2 | 616340 | N/A | | DFNA67 (AD) | https://omim.org/allelicVariants/606731 |
HOMER2 | 616707 | N/A | | DFNA68 (AD) | https://omim.org/allelicVariants/604799 |
KITLG | 616697 | N/A | | DFNA69 (AD) | https://omim.org/allelicVariants/184745 |
MCM2 | 616968 | N/A | | DFNA70 (AD) | https://omim.org/allelicVariants/116945 |
DMXL2 | 617605 | N/A | | DFNA71 (AD) | https://omim.org/allelicVariants/612186 |
SLC44A4 | 617606 | N/A | | DFNA72 (AD) | https://omim.org/allelicVariants/606107 |
PTPRQ | 617663 | N/A | | DFNA73 (AD) | https://omim.org/allelicVariants/603317 |
PDE1C | 618140 | N/A | | DFNA74 (AD) | https://omim.org/allelicVariants/602987 |
TRRAP | 618778 | N/A | | DFNA75 (AD) | https://omim.org/allelicVariants/603015 |
PLS1 | 618787 | N/A | | DFNA76 (AD) | https://omim.org/allelicVariants/602734 |
ABCC1 | 618915 | N/A | | DFNA77 (AD) | https://omim.org/allelicVariants/158343 |
GJB2 | 220290 | 10NB (P) | | DFNB1A (AR, DD) | https://omim.org/allelicVariants/121011 |
GJB3 | 220290 | N/A | | Deafness, digenic, GJB2/GJB3 (AR, DD) | https://omim.org/allelicVariants/603324 |
GJB6 | 220290 | N/A | | Deafness, digenic, GJB2/GJB6 | https://omim.org/allelicVariants/604418 |
GJB6 | 612645 | N/A | | DFNB1B (AR) | https://omim.org/allelicVariants/604418 |
MYO7A | 600060 | N/A | | DFNB2 (AR) | https://omim.org/allelicVariants/276903 |
MYO15A | 600316 | 10NB (P) | | DFNB3 (AR) | https://omim.org/allelicVariants/602666 |
SLC26A4 | 600791 | N/A | | DFNB4, with enlarged vestibular aqueduct (AR) | https://omim.org/allelicVariants/605646 |
TMIE | 600971 | 10NB (P) | | DFNB6 (AR) | https://omim.org/allelicVariants/607237 |
TMC1 | 600974 | 10NB (P) | | DFNB7 (AR) | https://omim.org/allelicVariants/606706 |
TMPRSS3 | 601072 | N/A | | DFNB8/10 (AR) | https://omim.org/allelicVariants/605511 |
OTOF | 601071 | N/A | | DFNB9 (AR) | https://omim.org/allelicVariants/603681 |
CDH23 | 601386 | 10NB (P) | | DFNB12 (AR) | https://omim.org/allelicVariants/605516 |
ATP2B2 | 601386 | N/A | | DFNB12, modifier of (AR) | https://omim.org/allelicVariants/108733 |
GIPC3 | 601869 | 10NB (P) | | DFNB15 (AR) | https://omim.org/allelicVariants/608792 |
STRC | 603720 | 10NB (P) | | DFNB16 (AR) | https://omim.org/allelicVariants/606440 |
USH1C | 602092 | N/A | | DFNB18A (AR) | https://omim.org/allelicVariants/605242 |
OTOG | 614945 | 10NB (P) | | DFNB18B (AR) | https://omim.org/allelicVariants/604487 |
TECTA | 603629 | 10NB (P) | | DFNB21 (AR) | https://omim.org/allelicVariants/602574 |
OTOA | 607039 | 10NB (P) | | DFNB22 (AR) | https://omim.org/allelicVariants/607038 |
PCDH15 | 609533 | N/A | | DFNB23 (AR) | https://omim.org/allelicVariants/605514 |
RDX | 611022 | 10NB (P) | | DFNB24 (AR) | https://omim.org/allelicVariants/179410 |
GRXCR1 | 613285 | 10NB (P) | | DFNB25 (AR) | https://omim.org/allelicVariants/613283 |
GAB1 | 605428 | N/A | | DFNB26 (AR) | https://omim.org/allelicVariants/604439 |
TRIOBP | 609823 | 10NB (P) | | DFNB28 (AR) | https://omim.org/allelicVariants/609761 |
CLDN14 | 614035 | 10NB (P) | | DFNB29 (AR) | https://omim.org/allelicVariants/605608 |
MYO3A | 607101 | 10NB (P) | | DFNB30 (AR) | https://omim.org/allelicVariants/606808 |
WHRN | 607084 | N/A | | DFNB31 (AR) | https://omim.org/allelicVariants/607928 |
CDC14A | 608653 | N/A | | DFNB32, with or without immotile sperm (AR) | https://omim.org/allelicVariants/603504 |
ESRRB | 608565 | 10NB (P) | | DFNB35 (AR) | https://omim.org/allelicVariants/602167 |
ESPN | 609006 | 10NB (P) | | DFNB36 (AR) | https://omim.org/allelicVariants/606351 |
MYO6 | 607821 | N/A | | DFNB37 (AR) | https://omim.org/allelicVariants/600970 |
HGF | 608265 | N/A | | DFNB39 (AR) | https://omim.org/allelicVariants/142409 |
ILDR1 | 609646 | 10NB (P) | | DFNB42 (AR) | https://omim.org/allelicVariants/609739 |
ADCY1 | 610154 | N/A | | DFNB44 (AR) | https://omim.org/allelicVariants/103072 |
CIB2 | 609439 | 10NB (P) | | DFNB48 (AR) | https://omim.org/allelicVariants/605564 |
MARVELD2 | 610153 | 10NB (P) | | DFNB49 (AR) | https://omim.org/allelicVariants/610572 |
COL11A2 | 609706 | N/A | | DFNB53 (AR) | https://omim.org/allelicVariants/120290 |
PDZD7 | 618003 | 10NB (P) | | DFNB57 (AR) | https://omim.org/allelicVariants/612971 |
PJVK | 610220 | 10NB (P) | | DFNB59 (AR) | https://omim.org/allelicVariants/610219 |
SLC26A5 | 613865 | N/A | | DFNB61 (AR) | https://omim.org/allelicVariants/604943 |
LRTOMT | 611451 | 10NB (P) | | DFNB63 (AR) | https://omim.org/allelicVariants/612414 |
DCDC2 | 610212 | N/A | | DFNB66 (AR) | https://omim.org/allelicVariants/605755 |
LHFPL5 | 610265 | 10NB (P) | | DFNB67 (AR) | https://omim.org/allelicVariants/609427 |
S1PR2 | 610419 | 10NB (P) | | DFNB68 (AR) | https://omim.org/allelicVariants/605111 |
PNPT1 | 614934 | N/A | | DFNB70 (AR) | https://omim.org/allelicVariants/610316 |
BSND | 602522 | N/A | | Sensorineural deafness with mild renal dysfunction (AR) | https://omim.org/allelicVariants/606412 |
MSRB3 | 613718 | N/A | | DFNB74 (AR) | https://omim.org/allelicVariants/613719 |
SYNE4 | 615540 | N/A | | DFNB76 (AR) | https://omim.org/allelicVariants/615535 |
LOXHD1 | 613079 | N/A | | DFNB77 (AR) | https://omim.org/allelicVariants/613072 |
TPRN | 613307 | 10NB (P) | | DFNB79 (AR) | https://omim.org/allelicVariants/613354 |
GPSM2 | 604213 | N/A | | DFNB82 (AR) | https://omim.org/allelicVariants/609245 |
PTPRQ | 613391 | 10NB (P) | | DFNB84A (AR) | https://omim.org/allelicVariants/603317 |
OTOGL | 614944 | 10NB (P) | | DFNB84B (AR) | https://omim.org/allelicVariants/614925 |
TBC1D24 | 614617 | N/A | | DFNB86 (AR) | https://omim.org/allelicVariants/613577 |
ELMOD3 | 615429 | N/A | | DFNB88 (AR) | https://omim.org/allelicVariants/615427 |
KARS (KARS1) | 613916 | N/A | | DFNB89 (AR) | https://omim.org/allelicVariants/601421 |
SERPINB6 | 613453 | N/A | | DFNB91 (AR) | https://omim.org/allelicVariants/173321 |
CABP2 | 614899 | 10NB (P) | | DFNB93 (AR) | https://omim.org/allelicVariants/607314 |
NARS2 | 618434 | N/A | | DFNB94 (AR) | https://omim.org/allelicVariants/612803 |
MET | 616705 | N/A | | DFNB97 (AR) | https://omim.org/allelicVariants/164860 |
TSPEAR | 614861 | N/A | | DFNB98 (AR) | https://omim.org/allelicVariants/612920 |
TMEM132E | 618481 | N/A | | DFNB99 (AR) | https://omim.org/allelicVariants/616178 |
PPIP5K2 | 618422 | N/A | | DFNB100 (AR) | https://omim.org/allelicVariants/611648 |
GRXCR2 | 615837 | N/A | | DFNB101 (AR) | https://omim.org/allelicVariants/615762 |
EPS8 | 615974 | N/A | | DFNB102 (AR) | https://omim.org/allelicVariants/600206 |
CLIC5 | 616042 | N/A | | DFNB103 (AR) | https://omim.org/allelicVariants/607293 |
RIPOR2 | 616515 | N/A | | DFNB104 (AR) | https://omim.org/allelicVariants/611410 |
EPS8L2 | 617637 | N/A | | DFNB106 (AR) | https://omim.org/allelicVariants/614988 |
WBP2 | 617639 | N/A | | DFNB107 (AR) | https://omim.org/allelicVariants/606962 |
ROR1 | 617654 | N/A | | DFNB108 (AR) | https://omim.org/allelicVariants/602336 |
ESRP1 | 618013 | N/A | | DFNB109 (AR) | https://omim.org/allelicVariants/612959 |
COCH | 618094 | N/A | | DFNB110 (AR) | https://omim.org/allelicVariants/603196 |
MPZL2 | 618145 | N/A | | DFNB111 (AR) | https://omim.org/allelicVariants/604873 |
BDP1 | 618257 | N/A | | DFNB112 (AR) | https://omim.org/allelicVariants/607012 |
CEACAM16 | 618410 | N/A | | DFNB113 (AR) | https://omim.org/allelicVariants/614591 |
GRAP | 618456 | N/A | | DFNB114 (AR) | https://omim.org/allelicVariants/604330 |
SPNS2 | 618457 | N/A | | DFNB115 (AR) | https://omim.org/allelicVariants/612584 |
KCNJ10 | 600791 | N/A | | Enlarged vestibular aqueduct, digenic (AR) | https://omim.org/allelicVariants/602208 |
FOXI1 | 600791 | N/A | | Enlarged vestibular aqueduct (AR) | https://omim.org/allelicVariants/601093 |
PRPS1 | 304500 | N/A | | DFNX1 (XL) | https://omim.org/allelicVariants/311850 |
POU3F4 | 304400 | 10NB (P) | | DFNX2 (XLR) | https://omim.org/allelicVariants/300039 |
SMPX | 300066 | N/A | | DFNX4 (XLD) | https://omim.org/allelicVariants/300226 |
AIFM1 | 300614 | N/A | | DFNX5 (XLR) | https://omim.org/allelicVariants/300169 |
COL4A6 | 300914 | N/A | | DFNX6 (XLR) | https://omim.org/allelicVariants/303631 |
GPRASP2 | 301018 | N/A | | DFNX7 (XLR) | https://omim.org/allelicVariants/300969 |