Genes associated with “sensorineural hearing loss”

261 genes foundHPO: Sensorineural hearing impairmentOpen Targets: sensorineural hearing loss1 PanelApp panel
How are genes scored? (0–100 composite)
-5–15
ClinGen
0–15
HPO Freq
0–15
Open Targets
0–12
Phen2Gene
0–10
ClinVar
0–8
Constraint
0–8
Dosage
0–8
OMIM CS
0–8
PanelApp
0–5
OMIM
0–5
G2P
0–4
Breadth
Tiers:Strong Candidates (≥20)Consider (≥8)Possible (≥3)
Evidence dots:
HPOClinVarPhen2GeneOpen TargetsPanelApp
hover for details

Strong Candidates

58 genes
1
GJB2 →

gap junction protein beta 2

55
score
ClinGen: DefinitivePanel: Green ↑P2G #29GTR ↑

Sensorineural hearing impairment

Frequency
100%
n=1
P/LP Variants
9
OT Score
0.62
2
EYA4 →

EYA transcriptional coactivator and phosphatase 4

49
score
ClinGen: DefinitivePanel: Green ↑GTR ↑

Sensorineural hearing impairment

Frequency
-
P/LP Variants
145
OT Score
0.50
3
CDH23 →

cadherin related 23

45
score
ClinGen: DefinitivePanel: Green ↑GTR ↑
Frequency
-
P/LP Variants
32
OT Score
0.55
4
MYO6 →

myosin VI

43
score
ClinGen: DefinitivePanel: Green ↑GTR ↑

Sensorineural hearing impairment

Frequency
100%
n=6
P/LP Variants
11
OT Score
0.42
5
37
score
ClinGen: DefinitivePanel: Green ↑GTR ↑

Sensorineural hearing impairment

Frequency
97%
n=182
P/LP Variants
7
OT Score
-
6
WFS1 →

wolframin ER transmembrane glycoprotein

36
score
ClinGen: DefinitivePanel: Green ↑P2G #34GTR ↑

Sensorineural hearing impairment

Frequency
80%
n=5
P/LP Variants
2
OT Score
0.57
7
HARS2 →

histidyl-tRNA synthetase 2, mitochondrial

34
score
ClinGen: LimitedPanel: Green ↑GTR ↑

Sensorineural hearing impairment

Frequency
100%
n=5
P/LP Variants
18
OT Score
0.37
8
SLC26A4 →

solute carrier family 26 member 4

32
score
ClinGen: DefinitivePanel: Green ↑GTR ↑
Frequency
-
P/LP Variants
13
OT Score
0.50
9
31
score
ClinGen: DefinitivePanel: Green ↑GTR ↑
Frequency
-
P/LP Variants
12
OT Score
-
30COL4A5
DefP:G
30CIB2
DefP:G
29STRC
DefP:G

Bilateral sensorineural hearing impairment

29ILDR1
DefP:G

Sensorineural hearing impairment

29PEX6
Def#9

Sensorineural hearing impairment

29PTPRQ
DefP:G

Sensorineural hearing impairment

28COL11A1
ModP:G#4

Sensorineural hearing impairment

28TBC1D24
DefP:G

Sensorineural hearing impairment

28ESPN
DefP:G

Prelingual sensorineural hearing impairment

28TMIE
DefP:G

transmembrane inner ear

27PRPS1
DefP:G#2
27KCNQ4
DefP:G
27SDHD
DefSFP:R

succinate dehydrogenase complex subunit D

27LMX1A
DefP:G

LIM homeobox transcription factor 1 alpha

27USH2A
DefP:G
27PAX2
DefP:G
26GIPC3
DefP:G

Prelingual sensorineural hearing impairment

26CEP78
StrP:G

centrosomal protein 78

26PAX3
DefP:G#19

Congenital sensorineural hearing impairment

26VHL
DefSF

Sensorineural hearing impairment

26COL2A1
DefP:G

Sensorineural hearing impairment

26DIAPH1
DefP:G

Sensorineural hearing impairment

24MARVELD2
DefP:G

Prelingual sensorineural hearing impairment

24MYO3A
DefP:G

Progressive sensorineural hearing impairment

24RDX
DefP:G

Profound sensorineural hearing impairment

24TPRN
DefP:G

Sensorineural hearing impairment

24PCDH15
DefP:G
23GJB6
DefP:G

Mixed hearing impairment

22CHD7
DefP:G

Sensorineural hearing impairment

22USH1C
DefP:G
22RPS6KA3
DefP:R

Sensorineural hearing impairment

22KCNJ10
DefP:G

Congenital sensorineural hearing impairment

22COL9A3
DefP:G

collagen type IX alpha 3 chain

21PIK3R1
Def
21CLRN2
ModP:A

Sensorineural hearing impairment

21COL4A3
DefP:R

Sensorineural hearing impairment

21COCH
DefP:G

Postlingual sensorineural hearing impairment

21LHFPL5
DefP:G

Bilateral sensorineural hearing impairment

21LRTOMT
DefP:G

Congenital sensorineural hearing impairment

21SMPX
DefP:G

Sensorineural hearing impairment

21TMC1
DefP:G

Sensorineural hearing impairment

21LARS2
DefP:G

Progressive sensorineural hearing impairment

21SLC52A2
DefP:G

solute carrier family 52 member 2

21MYO7A
DefP:G

myosin VIIA

21COL9A2
LimP:G

Sensorineural hearing impairment

20ALMS1
DefP:G

Progressive sensorineural hearing impairment

20GSDME
Def

Progressive sensorineural hearing impairment

20PJVK
Def

Sensorineural hearing impairment

20RIPOR2
StrP:A

Sensorineural hearing impairment

Consider

93 genes
20CLRN1
DefP:G

Sensorineural hearing impairment

20KCNQ1
DefSFP:G

Congenital sensorineural hearing impairment

19CLPP
DefP:G

Sensorineural hearing impairment

19SYNE4
ModP:G

Progressive sensorineural hearing impairment

19SOX10
DefP:G

Sensorineural hearing impairment

18SLC19A2
P:A#10

Sensorineural hearing impairment

18ADGRV1
DefP:G

Congenital sensorineural hearing impairment

18PEX26
Def#16

Sensorineural hearing impairment

18PLXNB2
P:G

plexin B2

17PEX1
Def#11
17PEX5
Def#12
17PHEX
DefP:R
17COL4A4
DefP:R

Sensorineural hearing impairment

17TIMM8A
DefP:G

Postlingual sensorineural hearing impairment

16PEX7
Def#1

Sensorineural hearing impairment

16SLC26A5
LimP:G

solute carrier family 26 member 5

15WHRN
DefP:G

Sensorineural hearing impairment

15SLC52A3
DefP:G

Sensorineural hearing impairment

15CASK
Def
15SERAC1
DefP:G

Sensorineural hearing impairment

15PEX12
Def#13

Sensorineural hearing impairment

15KARS1
Lim

Profound sensorineural hearing impairment

15ABHD12
DefP:G

abhydrolase domain containing 12, lysophospholipase

14DMXL2
LimP:G

Dmx like 2

14USH1G
DefP:G

Sensorineural hearing impairment

14PEX10
Def#8

Sensorineural hearing impairment

14BRAF
Def

Sensorineural hearing impairment

13ATP1A3
Def

Sensorineural hearing impairment

13FOXI1
LimP:G

Sensorineural hearing impairment

13ACPHD

ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS; ACPHD

13CAGSSS

CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA; CAGSSS

13CAPOS

CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS; CAPOS

13CATSHLS

CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME; CATSHLS

13CONDRHN

NEURODEGENERATION, EARLY-CHILDHOOD-ONSET, WITH RETINITIS PIGMENTOSA, SENSORINEURAL HEARING LOSS, AND DEMYELINATING PERIPHERAL NEUROPATHY; CONDRHN

13CRDHL2

CONE-ROD DYSTROPHY AND HEARING LOSS 2; CRDHL2

13DRTA2

RENAL TUBULAR ACIDOSIS, DISTAL, 2, WITH PROGRESSIVE SENSORINEURAL HEARING LOSS; DRTA2

13DRTA3

RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH OR WITHOUT SENSORINEURAL HEARING LOSS; DRTA3

13HAAO
DefP:G
13MATINS

MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS; MATINS

13NEDHSB

NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES; NEDHSB

13PCCA
Def
13PCCB
Def
13SHFM1D

SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL RECESSIVE; SHFM1D

13SHILCA

SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA

13XPA
DefP:G
13SIX1
DefP:G

Sensorineural hearing impairment

13SLC12A2
P:G

solute carrier family 12 member 2

12ACAN
DefP:R

aggrecan

12LHX3
P:G

LIM homeobox 3

12MET
DefP:A

Sensorineural hearing impairment

12MYH14
ModP:G

Progressive sensorineural hearing impairment

12ACOX1
DefP:A

Bilateral sensorineural hearing impairment

12GPR156
P:G

G protein-coupled receptor 156

12NLRP12
P:G

NLR family pyrin domain containing 12

11NMNAT1
Def

Sensorineural hearing impairment

11ATP6V0A4
P:R
11ERCC4
DefP:R
11TP53
DefSF

tumor protein p53

11TET3
Def
11CRYM
LimP:G

Sensorineural hearing impairment

11SMCHD1
Def
11FLNA
Def

Sensorineural hearing impairment

11THOC1
P:A

Sensorineural hearing impairment

11TMEM127
Def

transmembrane protein 127

10GAS2

Sensorineural hearing impairment

10NARS2
DefP:A

Bilateral sensorineural hearing impairment

10STXBP3
P:A

syntaxin binding protein 3

10TYR
Def

tyrosinase

10NOG
Def

Sensorineural hearing impairment

10ATRX
Def

Sensorineural hearing impairment

10ABCB11
10MFF-DT
10NLRP3
P:R

Progressive sensorineural hearing impairment

9KITLG
LimP:A

Sensorineural hearing impairment

9LMX1B
Def

Sensorineural hearing impairment

9POGZ
Def

Sensorineural hearing impairment

9AFG2A
Def
9RERE
Def
9SYNJ2
P:R

synaptojanin 2

9KDM6A
Def

Sensorineural hearing impairment

9SPTBN1
Def

spectrin beta, non-erythrocytic 1

9ACTB
DefP:R

Sensorineural hearing impairment

9ACTG1
DefP:G

Progressive sensorineural hearing impairment

9IDS
Def
9TRPV4
DefP:R
9XPC
DefP:R
9DAP3
P:G

Bilateral sensorineural hearing impairment

9ERCC2
DefP:R

Sensorineural hearing impairment

9COX10
Def

Sensorineural hearing impairment

8ESRP1
LimP:A

Congenital sensorineural hearing impairment

8ARHGEF28
Lim

Rho guanine nucleotide exchange factor 28

8RRM2B
8GALE
Def

Sensorineural hearing impairment

Possible

69 genes — click to expand
8ADCY1
LimP:R

Prelingual sensorineural hearing impairment

8RAC1
Def

Sensorineural hearing impairment

8ATP6V1B2
P:G

Bilateral sensorineural hearing impairment

7BDP1
LimP:R

Sensorineural hearing impairment

7DLX5
P:R

Sensorineural hearing impairment

7PHLDB1

pleckstrin homology like domain family B member 1

7NID2

nidogen 2

7COX6B1
Def

Sensorineural hearing impairment

7CTBP2

C-terminal binding protein 2

7AFG3L2
Def
7ASAH1
Def
7DST
Def
7ECHS1
Def
7GJB3
DefP:A

Sensorineural hearing impairment

7IARS2
Def
7NRAS
Def

Sensorineural hearing impairment

7DHRSX
P:A

Sensorineural hearing impairment

7SLC9A1
ModP:R

Sensorineural hearing impairment

7CRLS1
P:G

Sensorineural hearing impairment

7ASH1L
Def

Sensorineural hearing impairment

7GRB10

growth factor receptor bound protein 10

7GLIS3

Sensorineural hearing impairment

7CCDC68

coiled-coil domain containing 68

6MAST2
Lim

microtubule associated serine/threonine kinase 2

6TMEM213

transmembrane protein 213

6PAX1
Def

Mixed hearing impairment

6PTRH2
P:A

Sensorineural hearing impairment

6ZSCAN10

zinc finger and SCAN domain containing 10

6NADSYN1
6LETM1
P:G

Sensorineural hearing impairment

6KLF7

KLF transcription factor 7

6KLHDC7B

kelch domain containing 7B

6PAN2
Mod

Sensorineural hearing impairment

6LMO7

LIM domain 7

6SNAP91

synaptosome associated protein 91

6MINAR2

Sensorineural hearing impairment

6KMT2D
Def

Progressive sensorineural hearing impairment

5ARHGAP28

Rho GTPase activating protein 28

5ERCC6
Def

Sensorineural hearing impairment

5AP1S2
Def

Sensorineural hearing impairment

5ERCC3
DefP:R

Sensorineural hearing impairment

5INF2
Def

Sensorineural hearing impairment

5MECOM
Def

Sensorineural hearing impairment

5DVL1
P:R

Mixed hearing impairment

5SLC39A14

Sensorineural hearing impairment

5STXBP2
Def

Low-frequency sensorineural hearing impairment

5WDR37
Def

Sensorineural hearing impairment

4ALG11
Mod

Sensorineural hearing impairment

4PRORP
Def

Sensorineural hearing impairment

4C10ORF105
4CDK19
4COG7
Def

Sensorineural hearing impairment

4PIGV
Mod

Sensorineural hearing impairment

4THOC2
Def

Sensorineural hearing impairment

4C1QBP
Def

Sensorineural hearing impairment

4BUD13

Sensorineural hearing impairment

4MAP3K7

Congenital sensorineural hearing impairment

4CSPP1
Def

Sensorineural hearing impairment

4MRAS
Mod

Bilateral sensorineural hearing impairment

4NAXD
Def

Bilateral sensorineural hearing impairment

4ZIC1
Def

Sensorineural hearing impairment

3CDC45
Def

Sensorineural hearing impairment

3MIA3

Sensorineural hearing impairment

3AARS1
Def

Sensorineural hearing impairment

3DCAF17
Def

Sensorineural hearing impairment

3FLNB
Def

Sensorineural hearing impairment

3GUCY2D
Def

Sensorineural hearing impairment

3MED12
Def

Sensorineural hearing impairment

3MPZ
Def

Sensorineural hearing impairment

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Data aggregated from HPO/Monarch, ClinVar, OMIM (phenotypes + clinical synopsis), Open Targets, PanelApp, Phen2Gene, and Gene2Phenotype. Click a gene to view full details.