Genes associated with “sensorineural hearing loss

315 genes foundHPO: Sensorineural hearing impairmentOpen Targets: sensorineural hearing loss19457 ClinVar P/LP variants1 PanelApp panel
Some sources returned errors (2)

omim: Error: OMIM search: 429

omimClinSyn: Error: OMIM CS: 429

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

51 genes
1
EYA4

EYA transcriptional coactivator and phosphatase 4

47
score
ClinGen: DefinitivePanel: GreenGTR ↑
Frequency
-
P/LP Variants
6
OT Score
0.49
2
GJB2

gap junction protein beta 2

47
score
ClinGen: DefinitivePanel: GreenP2G #29GTR ↑

autosomal dominant nonsyndromic hearing loss 3A

Frequency
-
P/LP Variants
2
OT Score
0.62
3
SLC26A4

solute carrier family 26 member 4

40
score
ClinGen: DefinitivePanel: GreenGTR ↑

Pendred syndrome

Frequency
100%
n=15
P/LP Variants
5
OT Score
0.50
39
score
ClinGen: DefinitivePanel: GreenGTR ↑

macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss

Frequency
9%
n=11
P/LP Variants
3
OT Score
-
5
CDH23

cadherin related 23

39
score
ClinGen: DefinitivePanel: GreenGTR ↑
Frequency
-
P/LP Variants
1
OT Score
0.54
36
score
ClinGen: DefinitivePanel: GreenGTR ↑

autosomal recessive nonsyndromic hearing loss 15

Frequency
100%
n=17
P/LP Variants
1
OT Score
-
7
WFS1

wolframin ER transmembrane glycoprotein

35
score
ClinGen: DefinitivePanel: GreenP2G #34GTR ↑
Frequency
-
P/LP Variants
4
OT Score
0.57
35
score
ClinGen: DefinitivePanel: GreenP2G #2GTR ↑

hearing loss, X-linked 1

Frequency
-
P/LP Variants
2
OT Score
-
33
score
ClinGen: DefinitivePanel: GreenGTR ↑
Frequency
-
P/LP Variants
1
OT Score
-
32DMXL2
LimP:G

hearing loss, autosomal dominant 71

31STRC
DefP:G

autosomal recessive nonsyndromic hearing loss 16

31MYO7A
DefP:G

myosin VIIA

31CIB2
DefP:G

autosomal recessive nonsyndromic hearing loss 48

31PEX6
Def#9

peroxisomal biogenesis factor 6

30COL4A5
DefP:G
30PAX3
DefP:G#19
29TMPRSS3
DefP:G

transmembrane serine protease 3

29MYO15A
DefP:G

autosomal recessive nonsyndromic hearing loss 3

28ILDR1
DefP:G

immunoglobulin like domain containing receptor 1

28PDZD7
DefP:G

hearing loss, autosomal recessive 57

28SDHD
DefSFP:R

succinate dehydrogenase complex subunit D

28TMIE
DefP:G

transmembrane inner ear

28USH2A
DefP:G

Usher syndrome type 2A

27ATP6V1B1
DefP:G
27MYO6
DefP:G

myosin VI

27LMX1A
DefP:G

LIM homeobox transcription factor 1 alpha

27PAX2
DefP:G
26CEP78
StrP:G

centrosomal protein 78

26ESRRB
DefP:G

autosomal recessive nonsyndromic hearing loss 35

25TBC1D24
DefP:G

DOORS syndrome

25OTOG
DefP:G

autosomal recessive nonsyndromic hearing loss 18B

24PCDH15
DefP:G
24GPR156
P:G

hearing loss, autosomal recessive 121

24MITF
DefP:G

Tietz syndrome

23PEX5
Def#12
23CASK
Def

FG syndrome 4

23PEX16
Def#17
23GJB6
DefP:G

X-linked mixed hearing loss with perilymphatic gusher

22AP1B1
DefP:A

ichthyosiform erythroderma, corneal involvement, and hearing loss

22COL4A3
DefP:R

Alport syndrome 3b, autosomal recessive

22COL9A1
DefP:G

Stickler syndrome, type 4

22ALMS1
DefP:G

Alstrom syndrome

22SLC52A3
DefP:G
22TIMM8A
DefP:G

deafness dystonia syndrome

22CEACAM16
StrP:G

hearing loss, autosomal recessive 113

21PIK3R1
Def
21GRHL2
DefP:G

autosomal dominant nonsyndromic hearing loss 28

21LRTOMT
DefP:G

autosomal recessive nonsyndromic hearing loss 63

21OTOA
DefP:G

autosomal recessive nonsyndromic hearing loss 22

21SLC52A2
DefP:G

solute carrier family 52 member 2

20RIPOR2
StrP:A

autosomal dominant nonsyndromic hearing loss 21

Consider

109 genes
20CHD7
DefP:G

CHD7-related CHARGE syndrome

20PEX10
Def#8
20SOX10
DefP:G

PCWH syndrome

20COL4A4
DefP:R
20PEX1
Def#11

peroxisome biogenesis disorder due to PEX1 defect

19USH1C
DefP:G

autosomal recessive nonsyndromic hearing loss 18A

19SERPINB6
ModP:G
19COL9A3
DefP:G

Stickler syndrome, type 6

18FGFR3
DefP:R

camptodactyly-tall stature-scoliosis-hearing loss syndrome

18AFG2A
Def

microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome

18EPS8L2
ModP:G
18ADGRV1
DefP:G
18HSD17B4
DefP:G

Perrault syndrome 1

18HARS2
LimP:G

histidyl-tRNA synthetase 2, mitochondrial

18PEX3
Def#6
18PEX7
Def#1

peroxisome biogenesis disorder 9B

18PLXNB2
P:G

plexin B2

17LRP2
No P:R#5
17CLRN2
ModP:A

clarin 2

17PHEX
DefP:R
17RPS6KA3
DefP:R
17XPA
DefP:G
17PEX26
Def#16
17COL11A2
DefP:G

autosomal recessive nonsyndromic hearing loss 53

17DNMT1
DefP:G

autosomal dominant cerebellar ataxia, deafness and narcolepsy

16FOXC1
DefP:R

Axenfeld-Rieger syndrome type 3

16FOXI1
LimP:G
16SLC26A5
LimP:G

solute carrier family 26 member 5

15VHL
DefSF

von Hippel-Lindau tumor suppressor

15IDS
Def
15GRXCR2
ModP:G

autosomal recessive nonsyndromic hearing loss 101

15ABHD12
DefP:G

abhydrolase domain containing 12, lysophospholipase

14ERCC4
DefP:R
14FGF3
DefP:G

deafness with labyrinthine aplasia, microtia, and microdontia

14KARS1
Lim

deafness, congenital, and adult-onset progressive leukoencephalopathy

14SLC29A3
DefP:R

H syndrome

14PHYH
Def#7

adult Refsum disease

14SLITRK6
DefP:G

high myopia-sensorineural deafness syndrome

13TUBB4B
DefP:G

Leber congenital amaurosis with early-onset deafness

13DDX11
Def
13PCCA
Def
13RERE
Def
13XPC
DefP:R
13SIX1
DefP:G

autosomal dominant nonsyndromic hearing loss 23

13EDNRB
ModP:G

Waardenburg syndrome type 4A

13PTPN11
Def

Noonan syndrome 1

13ERCC2
DefP:R
13SLC12A2
P:G

solute carrier family 12 member 2

13BCS1L
DefP:G

Bjornstad syndrome

13EYA1
DefP:G

branchiootorenal syndrome 1

13YARS1
Def

neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2

12AP1S1
DefP:G

MEDNIK syndrome

12PCCB
Def
12TET3
Def
12LHX3
P:G

LIM homeobox 3

12DCAF17
Def

Woodhouse-Sakati syndrome

12SOX2
P:A

anophthalmia/microphthalmia-esophageal atresia syndrome

12ELN
Def

Williams syndrome

12NLRP12
P:G

NLR family pyrin domain containing 12

12NDP
DefP:R

Norrie disease

11ACTB
DefP:R

developmental malformations-deafness-dystonia syndrome

11ACAN
DefP:R

aggrecan

11NLRP3
P:R

Muckle-Wells syndrome

11POLH
DefP:R
11TP53
DefSF

tumor protein p53

11LETM1
P:G

neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction

11PMP22
DefP:A

Charcot-Marie-Tooth disease type 1E

11TMEM127
Def

transmembrane protein 127

10NARS2
DefP:A

hearing loss, autosomal recessive 94

10ATP1A3
Def

cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome

10GALE
Def

galactose epimerase deficiency

10RET
DefSF

ret proto-oncogene

10STXBP3
P:A

syntaxin binding protein 3

10ELMOD3
LimP:A

autosomal recessive nonsyndromic hearing loss 88

10ATRX
Def

alpha thalassemia-X-linked intellectual disability syndrome

10TYR
Def

tyrosinase

10PLS1
P:G
10TRPV4
DefP:R

Charcot-Marie-Tooth disease axonal type 2C

10AFG2B
Lim

hearing loss, autosomal recessive 119

10DNAJC3
P:G

juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome

10FGFR2
DefP:R

LADD syndrome 1

10AFG3L2
Def

optic atrophy 12

10COX10
Def

mitochondrial complex IV deficiency, nuclear type 3

9COL4A6
LimP:A

hearing loss, X-linked 6

9SPTBN1
Str

developmental delay, impaired speech, and behavioral abnormalities

otofacial neurodevelopmental syndrome

9ACTG1
DefP:G

autosomal dominant nonsyndromic hearing loss 20

9AHDC1
Def
9ARSL
Def
9DDB2
DefP:R
9DSPP
DefP:G

deafness, autosomal dominant 39, with dentinogenesis imperfecta 1

9KMT2D
Def

autosomal dominant deafness - onychodystrophy syndrome

9CLDN9
P:G

hearing loss, autosomal recessive 116

9HOXA2
P:G

bilateral microtia-deafness-cleft palate syndrome

9RFC4
P:G

Morimoto-Ryu-Malicdan neuromuscular syndrome

9SYNJ2
P:R

synaptojanin 2

neuropathy, hereditary sensory and autonomic, type 1A

8GUSB
DefP:R

mucopolysaccharidosis type 7

8GREB1L
P:G

hearing loss, autosomal dominant 80

8DHDDS
Def

retinitis pigmentosa 59

8ATP8B1
P:R
8SURF1
Def

mitochondrial complex IV deficiency, nuclear type 1

8FOXF2
P:A
8PNPT1
ModP:G

combined oxidative phosphorylation defect type 13

Possible

122 genes — click to expand
8KITLG
LimP:A

Waardenburg syndrome, IIa 2F

Rho guanine nucleotide exchange factor 28

8LRP5
Def

autosomal dominant osteosclerosis, Worth type

7TYMP
Def

mitochondrial DNA depletion syndrome 1

7MAP2K1
Def

Noonan syndrome 1

7ASAH1
Def
7FARS2
Def
7FBXL4
Def
7HNF4A
Def
7IRF4
Def
7KYNU
Def
7PKLR
Def
7PPARG
Def
7RFC1
Def
7RIPK1
Def
7TUBB2A
Def
7TUBB2B
Def

pleckstrin homology like domain family B member 1

7FITM2
Def

Siddiqi syndrome

C-terminal binding protein 2

nidogen 2

6CLIC5
P:A

autosomal recessive nonsyndromic hearing loss 103

6IARS2
Def

cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome

6NMNAT1
Def

spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis

6TMEM132E
LimP:R

hearing loss, autosomal recessive 99

transmembrane protein 213

6POGZ
Def

intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

6POLD1
DefSFP:R

immunodeficiency 120

growth factor receptor bound protein 10

growth arrest specific 2

coiled-coil domain containing 68

corneal dystrophy-perceptive deafness syndrome

Rho GTPase activating protein 28

KLF transcription factor 7

kelch domain containing 7B

LIM domain 7

synaptosome associated protein 91

GLIS family zinc finger 3

6SIN3A
Def

chromosome 15q24 deletion syndrome

5BCL9
Lim
5CHD1L
Lim
5EXOC2
Lim
5GFER
DefP:R

congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome

5GJB1
DefP:R

Charcot-Marie-Tooth disease X-linked dominant 1

5NEU1
DefP:R

sialidosis type 2

combined oxidative phosphorylation deficiency 37

5CD151
P:R

epidermolysis bullosa simplex 7, with nephropathy and deafness

hyperostosis cranialis interna

microcephaly 3, primary, autosomal recessive

Williams syndrome

5MYH11
DefSF

megacystis-microcolon-intestinal hypoperistalsis syndrome 2

5MYMK
Def

Carey-Fineman-Ziter syndrome 1

psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome

5TTR
DefSF

amyloidosis, hereditary systemic 1

progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2

4ERAL1
P:R

Perrault syndrome 6

neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy

4ACO2
Def

infantile cerebellar-retinal degeneration

4FMO5
Dis
4GJA5
Dis
4G6PC3
Def

autosomal recessive severe congenital neutropenia due to G6PC3 deficiency

4GJC2
Def

hereditary spastic paraplegia 44

4ELAC2
Def

combined oxidative phosphorylation defect type 17

3DVL1
P:R

autosomal dominant Robinow syndrome 2

3GNB1
Def

intellectual disability, autosomal dominant 42

3CNOT3
Def

intellectual developmental disorder with speech delay, autism, and dysmorphic facies

3SOX6
Def

Tolchin-Le Caignec syndrome

3COX16
Mod

mitochondrial complex IV deficiency, nuclear type 22

3ACVR1
Def

fibrodysplasia ossificans progressiva

3CYP7B1
Def

hereditary spastic paraplegia 5A

3FAT4
Def

van Maldergem syndrome 2

3FLNB
Def

spondylocarpotarsal synostosis syndrome

3GJA1
LimP:R

craniometaphyseal dysplasia, autosomal recessive

HSD10 mitochondrial disease

3MED12
Def

FG syndrome 1

3MOGS
Def

MOGS-congenital disorder of glycosylation

3PRKDC
Def

severe combined immunodeficiency due to DNA-PKcs deficiency

3SNX14
Def

autosomal recessive spinocerebellar ataxia 20

3TPM2
Def

arthrogryposis, distal, type 1A

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