Genes associated with “peripheral neuropathy

274 genes foundHPO: Peripheral neuropathyOpen Targets: peripheral neuropathy5 PanelApp panels
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

64 genes
1
PMP22

peripheral myelin protein 22

60
score
ClinGen: DefinitivePanel: Green (2)GTR ↑
Frequency
-
P/LP Variants
5
OT Score
0.86
2
MFN2

mitofusin 2

53
score
ClinGen: DefinitivePanel: Green (3)GTR ↑

Distal sensory impairment of all modalities

Frequency
-
P/LP Variants
37
OT Score
0.89
3
AIFM1

apoptosis inducing factor mitochondria associated 1

53
score
ClinGen: DefinitivePanel: Green (2)GTR ↑

Polyneuropathy

Frequency
50%
n=2
P/LP Variants
24
OT Score
0.85
4
HSPB1

heat shock protein family B (small) member 1

48
score
ClinGen: DefinitivePanel: Green (2)GTR ↑

Chronic axonal neuropathy

Frequency
-
P/LP Variants
2
OT Score
0.87
5
LYST

lysosomal trafficking regulator

47
score
ClinGen: DefinitivePanel: Green (3)P2G #15GTR ↑
Frequency
-
P/LP Variants
20
OT Score
0.85
6
TYMP

thymidine phosphorylase

46
score
ClinGen: DefinitivePanel: Green (2)GTR ↑

Peripheral neuropathy

Frequency
100%
n=34
P/LP Variants
7
OT Score
0.84
7
POLG

DNA polymerase gamma, catalytic subunit

45
score

Peripheral neuropathy

Frequency
100%
n=34
P/LP Variants
30
OT Score
0.88
8
ARSA

arylsulfatase A

44
score
ClinGen: DefinitivePanel: Green (2)P2G #10GTR ↑
Frequency
-
P/LP Variants
58
OT Score
0.90
9
GDAP1

ganglioside induced differentiation associated protein 1

44
score
ClinGen: DefinitivePanel: Green (2)P2G #35GTR ↑

Peripheral neuropathy

Frequency
100%
n=2
P/LP Variants
5
OT Score
0.88
43CYP27A1
DefP:G×2#13

cytochrome P450 family 27 subfamily A member 1

42SLC25A46
DefP:G×3

solute carrier family 25 member 46

41TTR
DefSFP:G×2

Polyneuropathy

40SCN9A
RefP:G×2#8

Peripheral neuropathy

40NTRK1
DefP:G×2

neurotrophic receptor tyrosine kinase 1

40SCN11A
DefP:G×2

sodium voltage-gated channel alpha subunit 11

39INF2
DefP:G×2

Peripheral neuropathy

39MCM3AP
DefP:G×2

Sensorimotor neuropathy

38NEFL
DefP:G×2

neurofilament light chain

37GALC
DefP:G×2#12

galactosylceramidase

37TRPV4
DefP:G×2

Peripheral axonal neuropathy

37PLA2G6
DefP:G

phospholipase A2 group VI

36IGHMBP2
DefP:G×2

immunoglobulin mu DNA binding protein 2

36MORC2
DefP:G×2

MORC family CW-type zinc finger 2

35GJB1
DefP:G×2

gap junction protein beta 1

33ITPR3
DefP:G
32PEX10
DefP:G×2

Motor axonal neuropathy

31DNM2
DefP:G×2

dynamin 2

30C19ORF12
DefP:G×3

Peripheral neuropathy

30DYNC1H1
DefP:G×2

dynein cytoplasmic 1 heavy chain 1

30PDHA1
DefP:G×2

pyruvate dehydrogenase E1 subunit alpha 1

30GAN
DefP:G×2

Sensory axonal neuropathy

29RETREG1
DefP:G×2

Peripheral axonal neuropathy

29EGR2
DefP:G×2

early growth response 2

29MPZ
DefP:G×2

myelin protein zero

ribonucleotide reductase regulatory TP53 inducible subunit M2B

28SPTLC1
DefP:G×2

Distal sensory impairment of all modalities

27DST
DefP:G×2
27HADHA
DefP:G×2

Peripheral neuropathy

27SETX
DefP:G×2

Chronic axonal neuropathy

27SPTLC2
DefP:G×2

Sensorimotor neuropathy

26AGTPBP1
DefP:G×2

Motor axonal neuropathy

26PRPS1
DefP:G×2#5

Peripheral axonal neuropathy

26SPG11
DefP:G×2

Peripheral axonal neuropathy

26FAH
DefP:G×2
25NEMF
StrP:G

Peripheral axonal neuropathy

25HADHB
DefP:G×2

Peripheral neuropathy

25MPV17
DefP:G×2

Peripheral axonal neuropathy

25SCN10A
DisP:G×2

sodium voltage-gated channel alpha subunit 10

24SPTBN4
DefP:G×2

Peripheral axonal neuropathy

24PEX7
DefP:G×2#4

Polyneuropathy

24PNPLA6
DefP:G×2

Peripheral axonal neuropathy

24SURF1
DefP:G×2

SURF1 cytochrome c oxidase assembly factor

24MMACHC
DefP:G×2

metabolism of cobalamin associated C

23ATL1
DefP:G×2

Peripheral neuropathy

23MME
DefP:G×2

Sensorimotor neuropathy

22ABCA1
P:G×2

Peripheral axonal neuropathy

22HEXA
DefP:G

hexosaminidase subunit alpha

22PMM2
DefP:G×2

Polyneuropathy

22HEXB
DefP:G

hexosaminidase subunit beta

22BTD
DefSFP:G

biotinidase

21FBLN5
ModP:G×2

Peripheral axonal neuropathy

21SMN1
P:G×2

survival of motor neuron 1, telomeric

21SLC12A6
P:G×2

Motor axonal neuropathy

20HMBS
DefP:G×2

Sensorimotor neuropathy

Consider

98 genes
19SBF1
ModP:G×2
19KIF5A
DefP:G×2
19VPS13A
P:G×2#6

Sensory neuropathy

19PSAP
Def

Polyneuropathy

19PEX5
Def

peroxisomal biogenesis factor 5

19DNMT1
DefP:G×2

Sensory neuropathy

18ERCC6
DefP:G×2

Polyneuropathy

18VPS13D
LimP:G

Peripheral axonal neuropathy

18DLD
DefP:R

dihydrolipoamide dehydrogenase

17COQ4
Def

Polyneuropathy

17SCO2
DefP:G

Peripheral neuropathy

17ABCD1
DefP:G

Polyneuropathy

17CTDP1
P:G×2

Motor polyneuropathy

17PEX12
Def

Polyneuropathy

17COQ8A
P:R×2

coenzyme Q8A

16ABHD12
DefP:G×2

Demyelinating peripheral neuropathy

16PEX6
Def

peroxisomal biogenesis factor 6

16RAB7A
DefP:G×2

Sensorimotor neuropathy

16PEX1
Def

peroxisomal biogenesis factor 1

16SOX10
DefP:G×2

Demyelinating peripheral neuropathy

16FXN
DefP:G×3
16PPOX
StrP:G×2

Peripheral neuropathy

16MTHFR
Def

methylenetetrahydrofolate reductase

16PEX2
Def

peroxisomal biogenesis factor 2

16PEX13
Def

peroxisomal biogenesis factor 13

16SMPD1
Def

sphingomyelin phosphodiesterase 1

16OAT
Def

ornithine aminotransferase

16PEX26
Def

peroxisomal biogenesis factor 26

15KIF1A
DefP:G×2

Peripheral axonal neuropathy

15VWA1
P:G×2

Motor axonal neuropathy

14MYH14
ModP:G×2
14OPA1
DefP:G×4

Peripheral axonal neuropathy

14RCC1
P:G×2

Sensorimotor neuropathy

14HK1
P:G×3

Peripheral neuropathy

13ARL6IP1
DefP:G×2

Motor polyneuropathy

13TUBB3
DefP:G×2

Peripheral axonal neuropathy

13FLVCR1
DefP:G×2

Motor polyneuropathy

AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY; ACCPN

PERIPHERAL MOTOR NEUROPATHY, CHILDHOOD-ONSET, BIOTIN-RESPONSIVE; COMNB

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

DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY; DFNX5

13HMGCL
Def

NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIC, WITH OPTIC ATROPHY; HMSN6C

INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY; IDDPN

INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN

IMMUNODEFICIENCY 133 WITH ECTODERMAL DYSPLASIA WITH OR WITHOUT PERIPHERAL NEUROPATHY; IMD133

13NGLY1
Def

PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT; PNRIID

PERIPHERAL NEUROPATHY WITH VARIABLE SPASTICITY, EXERCISE INTOLERANCE, AND DEVELOPMENTAL DELAY; PNSED

13TRMT5
DefP:G
13AFG3L2
DefP:G×2

Peripheral axonal neuropathy

13COA7
DefP:G×2

Demyelinating sensory neuropathy

13FDXR
DefP:G×2

Sensory neuropathy

13IARS2
DefP:G×2

Peripheral neuropathy

12LITAF
ModP:G×2

Sensorimotor neuropathy

12RAI1
Def

Peripheral neuropathy

12VRK1
P:G×2

Motor axonal neuropathy

12ATAD3A
P:G×2
12DRP2
P:G×2
12NARS1
Mod
12BAG3
DefSFP:G×2

Demyelinating peripheral neuropathy

12CPOX
DefP:G×2

Acute episodes of neuropathic symptoms

12NF2
DefSFP:G

Peripheral neuropathy

11RTN2
P:G

Motor axonal neuropathy

11COX10
Def
11NAGA
DefP:G×2

Distal sensory impairment of all modalities

11TDP1
P:G×2

Sensory neuropathy

11ZFYVE26
P:G×2

Peripheral axonal neuropathy

10ARHGAP19
P:G×2

Mixed demyelinating and axonal polyneuropathy

10PTRH2
P:G×2

Demyelinating peripheral neuropathy

10ADA2
DefP:G

Peripheral neuropathy

10ITPR1
DefP:R×2

Peripheral neuropathy

10EMILIN1
DefP:G

Peripheral neuropathy

10DMXL2
LimP:G

Polyneuropathy

10NDC1
P:G×2

Demyelinating motor neuropathy

10REEP1
P:G×2

Peripheral axonal neuropathy

10ATP1A3
DefP:G

Peripheral axonal neuropathy

9MT-ND3
Def
9MT-ND5
Def
9COX20
DefP:G

Sensory axonal neuropathy

9DGUOK
DefP:A×2

Peripheral axonal neuropathy

9ATP7B
DefSF

Mixed demyelinating and axonal polyneuropathy

9SCP2
DefP:R×2

Peripheral neuropathy

Peripheral axonal neuropathy

8KLC2
P:R×2
8PIGB
ModP:G

Peripheral axonal neuropathy

8PNPT1
ModP:G

Sensory neuropathy

8TRIM2
P:G×2

Peripheral axonal neuropathy

Possible

94 genes — click to expand
8COX18
P:G

Polyneuropathy

8LETM1
P:G

Peripheral neuropathy

8XRCC1
P:A×2

Sensorimotor neuropathy

7CAPN1
P:G

Peripheral neuropathy

7DHX9
P:G

Peripheral axonal neuropathy

7UQCRC1
DisP:A

Polyneuropathy

7CCT5
P:R×2

Peripheral axonal neuropathy

7HECW2
Def
7HYCC1
Def
7MT-CO1
Def
7MT-CO2
Def
7MT-CO3
Def
7MT-ND4
Def
7MT-ND6
Def
7MT-TA
Def
7MT-TH
Def
7MT-TK
Def
7MT-TN
Def
7MT-TS1
Def
7MT-TS2
Def
7MT-TW
Def
7MT-TY
Def
7YARS1
Def
6EDNRB
Mod

Polyneuropathy

6BORCS8
P:G

Peripheral neuropathy

6LDB3
StrP:R×2

Polyneuropathy

6MT-ND2
Mod
6MT-TD
Mod
6MT-TG
Mod
6MT-TR
Mod
6PIEZO2
P:G

Sensory axonal neuropathy

Polyneuropathy

Peripheral neuropathy

5ELOVL4
Def

Peripheral axonal neuropathy

5GTPBP2
Def

Peripheral neuropathy

Peripheral axonal neuropathy

Sensorimotor neuropathy

5FMR1
Def

Peripheral neuropathy

5MT-TC
Lim

PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS; PNMHH

5SARS1
Lim
5MTRFR
Def

Polyneuropathy

5GNPTAB
Def

Sensory neuropathy

Peripheral neuropathy

4DCAF17
Def

Peripheral neuropathy

Sensorimotor neuropathy

4AMPD2
P:A

Peripheral axonal neuropathy

4CPT1B
No
4SPG21
P:R×2

Peripheral neuropathy

4PEX16
Def

Peripheral neuropathy

Demyelinating peripheral neuropathy

4NFU1
Def

Peripheral neuropathy

3XRCC4
Lim

Sensory axonal neuropathy

3TMEM70
Def

Polyneuropathy

3SPTBN1
Def

Polyneuropathy

Polyneuropathy

Peripheral axonal neuropathy

3IBA57
Def

Peripheral axonal neuropathy

3IDUA
Def

Constrictive median neuropathy

3MPC1
Def

Peripheral neuropathy

3PEX11B
Def

Polyneuropathy

3RMND1
Def

Peripheral neuropathy

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