Genes associated with “sensorineural hearing loss”

Diagnostic yield calculator →
266 genes foundHPO: Sensorineural hearing impairmentOpen Targets: sensorineural hearing loss disorder1 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
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Strong Candidates

50 genes
1
GJB2 →

gap junction protein beta 2

51
score
ClinGen: DefinitivePanel: Green ↑P2G #29GTR ↑

Progressive sensorineural hearing impairment

Frequency
-
P/LP Variants
13
OT Score
0.48
2
EYA4 →

EYA transcriptional coactivator and phosphatase 4

48
score
ClinGen: DefinitivePanel: Green ↑GTR ↑
Frequency
-
P/LP Variants
145
OT Score
0.51
3
CDH23 →

cadherin related 23

43
score
ClinGen: DefinitivePanel: Green ↑GTR ↑
Frequency
-
P/LP Variants
33
OT Score
0.42
4
37
score
ClinGen: DefinitivePanel: Green ↑GTR ↑

Sensorineural hearing impairment

Frequency
97%
n=182
P/LP Variants
7
OT Score
-
5
SLC26A4 →

solute carrier family 26 member 4

37
score
ClinGen: DefinitivePanel: Green ↑GTR ↑

Sensorineural hearing impairment

Frequency
100%
n=10
P/LP Variants
14
OT Score
0.39
6
33
score
ClinGen: DefinitivePanel: Green ↑GTR ↑

Sensorineural hearing impairment

Frequency
-
P/LP Variants
3
OT Score
-
7
32
score
ClinGen: DefinitivePanel: Green ↑P2G #19GTR ↑

Congenital sensorineural hearing impairment

Frequency
33%
n=3
P/LP Variants
5
OT Score
-
8
DMXL2 →

Dmx like 2

32
score
ClinGen: LimitedPanel: Green ↑GTR ↑

Sensorineural hearing impairment

Frequency
100%
n=11
P/LP Variants
2
OT Score
0.42
9
32
score
ClinGen: DefinitivePanel: Green ↑GTR ↑

Sensorineural hearing impairment

Frequency
100%
n=23
P/LP Variants
-
OT Score
-
31GIPC3
DefP:G

Sensorineural hearing impairment

31ATP6V1B1
DefP:G
30ABHD12
DefP:G

Sensorineural hearing impairment

30KCNQ4
DefP:G
30COL4A5
DefP:G
29TMPRSS3
DefP:G

transmembrane serine protease 3

29LOXHD1
DefP:G

lipoxygenase homology PLAT domains 1

29TBC1D24
DefP:G

Sensorineural hearing impairment

29PCDH15
LimP:G

Sensorineural hearing impairment

28SDHD
DefSFP:R

succinate dehydrogenase complex subunit D

28ILDR1
DefP:G

immunoglobulin like domain containing receptor 1

28USH2A
DefP:G

Congenital sensorineural hearing impairment

27PRPS1
DefP:G#2
27MYO6
DefP:G

myosin VI

26MYH9
DefP:G

Sensorineural hearing impairment

26VHL
DefSF

Sensorineural hearing impairment

26DIAPH1
DefP:G

Sensorineural hearing impairment

26WFS1
DefP:G
25PDZD7
DefP:G

Congenital sensorineural hearing impairment

25OTOG
DefP:G

Sensorineural hearing impairment

25ESPN
DefP:G

Prelingual sensorineural hearing impairment

24MYO3A
DefP:G

Progressive sensorineural hearing impairment

24TECTA
DefP:G

Sensorineural hearing impairment

23MITF
DefP:G

Sensorineural hearing impairment

23USH1C
DefP:G

Congenital sensorineural hearing impairment

23CASK
Def

Sensorineural hearing impairment

23GJB6
DefP:G

Mixed hearing impairment

22CHD7
DefP:G

Sensorineural hearing impairment

22MYO7A
DefP:G

Bilateral sensorineural hearing impairment

22COL9A3
DefP:G

collagen type IX alpha 3 chain

22SLC12A2
P:G

Profound sensorineural hearing impairment

22CEACAM16
StrP:G

Sensorineural hearing impairment

21CLRN2
ModP:A

Sensorineural hearing impairment

21LHFPL5
DefP:G

Bilateral sensorineural hearing impairment

21LRTOMT
DefP:G

Congenital sensorineural hearing impairment

21SMPX
DefP:G

Sensorineural hearing impairment

21COL9A2
LimP:G

Sensorineural hearing impairment

21PAX2
DefP:G
20COL4A3
DefP:R
20RIPOR2
StrP:A

Prelingual sensorineural hearing impairment

20S1PR2
StrP:G

Sensorineural hearing impairment

Consider

103 genes
20SLC52A2
DefP:G

solute carrier family 52 member 2

20COL4A4
DefP:R
19CLPP
DefP:G

Sensorineural hearing impairment

19SYNE4
ModP:G

Progressive sensorineural hearing impairment

19ADGRV1
DefP:G
19ALMS1
DefP:G
18SLC19A2
P:A#10

Sensorineural hearing impairment

18SIX1
DefP:G

Sensorineural hearing impairment

18PLXNB2
P:G

plexin B2

18PEX7
Def#1

Sensorineural hearing impairment

18PIK3R1
Def
17PEX1
Def#11
17ATP6V0A4
P:R

Bilateral sensorineural hearing impairment

17PHEX
DefP:R
17RPS6KA3
DefP:R
17TIMM8A
DefP:G

Postlingual sensorineural hearing impairment

17DNMT1
DefP:G

Sensorineural hearing impairment

16WHRN
DefP:G
16SLC26A5
LimP:G

solute carrier family 26 member 5

15HAAO
DefP:G
15SLC52A3
DefP:G

Sensorineural hearing impairment

15CLDN9
ModP:G

Sensorineural hearing impairment

15GRXCR2
ModP:G

Bilateral sensorineural hearing impairment

15TUBB4B
DefP:G

tubulin beta 4B class IVb

14LHX3
P:G

Sensorineural hearing impairment

14PEX10
Def#8

Sensorineural hearing impairment

14SLITRK6
DefP:G

Sensorineural hearing impairment

13PEX6
Def#9

Sensorineural hearing impairment

13KCNE1
LimP:G

Congenital 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

13IDS
Def
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

13TET3
Def
13XPA
DefP:G
13EDNRB
ModP:G

Sensorineural hearing impairment

13BCS1L
DefP:G

Sensorineural hearing impairment

13PEX26
Def#16

Sensorineural hearing impairment

13EYA1
DefP:G

Mixed hearing impairment

12ACAN
DefP:R

aggrecan

12ACOX1
DefP:A

Bilateral sensorineural hearing impairment

12BRAF
Def

Sensorineural hearing impairment

12ELN
Def

Sensorineural hearing impairment

12GPR156
P:G

G protein-coupled receptor 156

12NLRP12
P:G

NLR family pyrin domain containing 12

12RFC4
P:G

replication factor C subunit 4

12NDP
DefP:R

Sensorineural hearing impairment

11ACTB
DefP:R

Sensorineural hearing impairment

11NMNAT1
Def

Sensorineural hearing impairment

11TP53
DefSF

tumor protein p53

11BCAP31
DefP:R

Sensorineural hearing impairment

11KARS1
Lim

Sensorineural hearing impairment

11RNF220
P:G

Sensorineural hearing impairment

11FDXR
DefP:G

Sensorineural hearing impairment

11LETM1
P:G

Bilateral sensorineural hearing impairment

11PDE1C
Lim

Sensorineural hearing impairment

11SMCHD1
Def
11BSND
DefP:G

Sensorineural hearing impairment

11PMP22
DefP:A

Sensorineural hearing impairment

11TMEM127
Def

transmembrane protein 127

10SPTBN1
Def

Bilateral sensorineural hearing impairment

10NARS2
DefP:A

Bilateral sensorineural hearing impairment

10ATP1A3
Def

Progressive sensorineural hearing impairment

10GALE
Def

Sensorineural hearing impairment

10GAS2

Sensorineural hearing impairment

10STXBP3
P:A

syntaxin binding protein 3

10TYR
Def

tyrosinase

10ELMOD3
LimP:A

Mixed hearing impairment

10ABCB11
10MFF-DT
10NLRP3
P:R

Progressive sensorineural hearing impairment

10FSCN2

fascin actin-bundling protein 2, retinal

9KITLG
LimP:A

Sensorineural hearing impairment

9COL4A6
LimP:A

Bilateral sensorineural hearing impairment

9POGZ
Def

Sensorineural hearing impairment

9IARS2
Def
9UBE3B
Def
9SYNJ2
P:R

synaptojanin 2

9ACTG1
DefP:G

Bilateral sensorineural hearing impairment

9ERCC4
DefP:R
9ERCC5
DefP:R
9FOXC1
DefP:R
9POLH
DefP:R
9XPC
DefP:R
9ERCC2
DefP:R

Sensorineural hearing impairment

9CRLS1
ModP:G

Sensorineural hearing impairment

9RERE
Def

Sensorineural hearing impairment

8ESRP1
LimP:A

Congenital sensorineural hearing impairment

8ARHGEF28
Lim

Rho guanine nucleotide exchange factor 28

8SURF1
Def

Sensorineural hearing impairment

8RRM2B
8PNPT1
ModP:G

Sensorineural hearing impairment

Possible

79 genes — click to expand
8LRP5
Def

Sensorineural hearing impairment

7TYMP
Def

Sensorineural hearing impairment

7COX15
Def

Sensorineural hearing impairment

7MAP2K1
Def

Sensorineural hearing impairment

7AFG3L2
Def
7ASAH1
Def
7DST
Def
7ECHS1
Def
7HNF4A
Def
7KYNU
Def
7CTBP2

C-terminal binding protein 2

7NRAS
Def

Sensorineural hearing impairment

7PHLDB1

pleckstrin homology like domain family B member 1

7DHRSX
P:A

Sensorineural hearing impairment

7SPTLC1
Def

Sensorineural hearing impairment

7FITM2
Def

Sensorineural hearing impairment

7CCDC68

coiled-coil domain containing 68

6TMEM132E
LimP:R

Sensorineural hearing impairment

6LMO7

LIM domain 7

6NID2

nidogen 2

6NADSYN1
6KLHDC7B

kelch domain containing 7B

6POLD1
DefSFP:R

Sensorineural hearing impairment

6MAST2
Lim

microtubule associated serine/threonine kinase 2

6GRB10

growth factor receptor bound protein 10

6TMEM213

transmembrane protein 213

6NR3C1

nuclear receptor subfamily 3 group C member 1

6KLF7

KLF transcription factor 7

6MINAR2

Sensorineural hearing impairment

6SPINK5
DefP:R

Sensorineural hearing impairment

6GLIS3

GLIS family zinc finger 3

6SIN3A
Def

Sensorineural hearing impairment

6SNAP91

synaptosome associated protein 91

5CRIP3

cysteine rich protein 3

5ARHGAP28

Rho GTPase activating protein 28

5GPX3

glutathione peroxidase 3

5MAP3K20
Str

Sensorineural hearing impairment

5ABHD5
DefP:R

Sensorineural hearing impairment

5AP1S2
Def

Sensorineural hearing impairment

5DIAPH3
LimP:A

Sensorineural hearing impairment

5INF2
Def

Sensorineural hearing impairment

5SLC39A14

Sensorineural hearing impairment

5CTSA
Def

Sensorineural hearing impairment

5MYMK
Def

Sensorineural hearing impairment

5SLC30A9
Def

Progressive sensorineural hearing impairment

5STXBP2
Def

Low-frequency sensorineural hearing impairment

5ATP6AP1
Def

Sensorineural hearing impairment

4ERAL1
P:R

Sensorineural hearing impairment

4ZFX
Str

Sensorineural hearing impairment

4ACO2
Def

Sensorineural hearing impairment

4BIVM-ERCC5
4C10ORF105
4CCDC140
4CDK19
4GRAP
LimP:R

Sensorineural hearing impairment

4KLC4
4LATS2
4XPO4
4GJC2
Def

Sensorineural hearing impairment

4PIGV
Mod

Sensorineural hearing impairment

4THOC2
Def

Sensorineural hearing impairment

4ELAC2
Def

Sensorineural hearing impairment

4IKZF2
Mod

Severe sensorineural hearing impairment

4NAXD
Def

Bilateral sensorineural hearing impairment

4ZIC1
Def

Sensorineural hearing impairment

3BICRA
Def

Sensorineural hearing impairment

3DVL1
P:R

Sensorineural hearing impairment

3GNB1
Def

Sensorineural hearing impairment

3CNOT3
Def

Sensorineural hearing impairment

3CDK5RAP2
Def

Sensorineural hearing impairment

3CHSY1
Def

Bilateral sensorineural hearing impairment

3CYP7B1
Def

Sensorineural hearing impairment

3DCAF17
Def

Sensorineural hearing impairment

3FAM20C
Def

Mixed hearing impairment

3FLNB
Def

Sensorineural hearing impairment

3GJA1
LimP:R

Mixed hearing impairment

3HSD17B10
Def

Sensorineural hearing impairment

3MED12
Def

Sensorineural hearing impairment

3PNPLA2
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.