Genes associated with “peripheral neuropathy”

231 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
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Strong Candidates

60 genes
1
PMP22 →

peripheral myelin protein 22

61
score
ClinGen: DefinitivePanel: Green (2) ↑GTR ↑

Peripheral neuropathy

Frequency
-
P/LP Variants
5
OT Score
0.87
2
MFN2 →

mitofusin 2

52
score
ClinGen: DefinitivePanel: Green (3) ↑GTR ↑
Frequency
-
P/LP Variants
37
OT Score
0.89
3
AIFM1 →

apoptosis inducing factor mitochondria associated 1

52
score
ClinGen: DefinitivePanel: Green (2) ↑GTR ↑

Sensory axonal neuropathy

Frequency
-
P/LP Variants
24
OT Score
0.85
4
DYNC1H1 →

dynein cytoplasmic 1 heavy chain 1

50
score
ClinGen: DefinitivePanel: Green (2) ↑GTR ↑

Peripheral neuropathy

Frequency
-
P/LP Variants
5
OT Score
0.86
5
SCN11A →

sodium voltage-gated channel alpha subunit 11

49
score
ClinGen: DefinitivePanel: Green (2) ↑GTR ↑
Frequency
-
P/LP Variants
3
OT Score
0.88
6
HSPB1 →

heat shock protein family B (small) member 1

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

Peripheral neuropathy

Frequency
-
P/LP Variants
2
OT Score
0.87
7
LYST →

lysosomal trafficking regulator

47
score
ClinGen: DefinitivePanel: Green (3) ↑P2G #15GTR ↑
Frequency
-
P/LP Variants
31
OT Score
0.85
8
IGHMBP2 →

immunoglobulin mu DNA binding protein 2

47
score
ClinGen: DefinitivePanel: Green (2) ↑GTR ↑
Frequency
-
P/LP Variants
7
OT Score
0.87
9
ARSA →

arylsulfatase A

45
score
ClinGen: DefinitivePanel: Green (2) ↑P2G #10GTR ↑

Progressive peripheral neuropathy

Frequency
-
P/LP Variants
40
OT Score
0.90
45POLG
LimP:G×3

Peripheral neuropathy

44CYP27A1
DefP:G×2#13

Peripheral neuropathy

42SLC25A46
DefP:G×3

solute carrier family 25 member 46

41TTR
DefSFP:G×2

Peripheral neuropathy

41MPZ
DefP:G×2

Peripheral neuropathy

40NTRK1
DefP:G×2

neurotrophic receptor tyrosine kinase 1

40NEFL
DefP:G×2

Peripheral neuropathy

38TRPV4
DefP:G×2

Motor polyneuropathy

38GALC
DefP:G×2#12

Sensorimotor neuropathy

37PLA2G6
DefP:G

phospholipase A2 group VI

37ITPR3
DefP:G

Motor polyneuropathy

36MCM3AP
DefP:G×2

Peripheral axonal neuropathy

36GJB1
DefP:G×2

Peripheral neuropathy

36MME
DefP:G×2

membrane metalloendopeptidase

35HADHA
DefP:G×2

hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha

32SETX
DefP:G×2

Peripheral axonal neuropathy

31SH3TC2
DefP:G×2

Constrictive median neuropathy

31DNM2
DefP:G×2

dynamin 2

30SCN9A
RefP:G×2#8

sodium voltage-gated channel alpha subunit 9

30PDHA1
DefP:G×2

pyruvate dehydrogenase E1 subunit alpha 1

30GDAP1
DefP:G×2

ganglioside induced differentiation associated protein 1

29RETREG1
DefP:G×2

Peripheral axonal neuropathy

29EGR2
DefP:G×2

early growth response 2

28DST
DefP:G×2

Sensory neuropathy

28SPTLC1
DefP:G×2

Chronic axonal neuropathy

28RRM2B

ribonucleotide reductase regulatory TP53 inducible subunit M2B

26WNK1
DefP:G×2

Peripheral neuropathy

26SPG11
DefP:G×2

Motor polyneuropathy

26FAH
DefP:G×2
25HADHB
DefP:G×2

Peripheral neuropathy

25SURF1
DefP:G×2

Peripheral neuropathy

25SPTBN4
DefP:G×2

Demyelinating motor neuropathy

25PNPLA6
DefP:G×2

Peripheral neuropathy

24PRPS1
DefP:G×2#5

Polyneuropathy

24NEFH
DefP:G×3

Sensorimotor neuropathy

24PEX10
DefP:G×2

peroxisomal biogenesis factor 10

24TYMP
DefP:G×2

Sensorimotor neuropathy

24MMACHC
DefP:G×2

metabolism of cobalamin associated C

24INF2
DefP:G×2

inverted formin 2

22DNMT1
DefP:G×2

Sensory neuropathy

22MPV17
DefP:G×2

Polyneuropathy

22HEXA
DefP:G

hexosaminidase subunit alpha

22NGF
StrP:G×2

Peripheral neuropathy

22HEXB
DefP:G

hexosaminidase subunit beta

22BTD
DefSFP:G

biotinidase

21ABCA1
P:G×2
21NEMF
StrP:G
21PMM2
DefP:G×2
21SLC12A6
P:G×2

Peripheral neuropathy

21SMN1
P:G×2

survival of motor neuron 1, telomeric

20COQ7
StrP:G

Polyneuropathy

Consider

100 genes
19VPS13A
P:G×2#6

Sensory neuropathy

19PSAP
Def

Peripheral neuropathy

19PEX5
Def

peroxisomal biogenesis factor 5

18VPS13D
LimP:G

Peripheral axonal neuropathy

18KIF1A
DefP:G×2

Peripheral axonal neuropathy

18DLD
DefP:R

dihydrolipoamide dehydrogenase

18PPOX
StrP:G×2

Sensory neuropathy

17PEX16
Def

Peripheral neuropathy

17HMBS
DefP:G×2

Acute episodes of neuropathic symptoms

17PEX12
Def

Polyneuropathy

17COQ8A
P:R×2

coenzyme Q8A

17PNKP
DefP:G×2

Peripheral neuropathy

16PEX6
Def

peroxisomal biogenesis factor 6

16ATAD3A
P:G×2

Peripheral axonal neuropathy

16PEX1
Def

peroxisomal biogenesis factor 1

16FXN
DefP:G×3
16MTHFR
Def

methylenetetrahydrofolate reductase

16PEX2
Def

peroxisomal biogenesis factor 2

16PEX13
Def

peroxisomal biogenesis factor 13

16PEX26
Def

peroxisomal biogenesis factor 26

16SMPD1
Def

sphingomyelin phosphodiesterase 1

16OAT
Def

ornithine aminotransferase

16COQ4
Def

coenzyme Q4

15AMACR
DefP:G

Sensorimotor neuropathy

15CADM3
ModP:G

Peripheral neuropathy

15ERCC8
DefP:G×2

Polyneuropathy

15TRMT5
DefP:G

Peripheral neuropathy

15RAB7A
DefP:G×2

Sensory neuropathy

14ATP1A1
ModP:G×2

Sensorimotor neuropathy

14ARHGAP19
P:G×2

Motor axonal neuropathy

13DARS2
DefP:G×2

Motor axonal neuropathy

13TWNK
DefP:G×2

Sensory axonal neuropathy

13ACCPN

AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY; ACCPN

13COMNB

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

13CONDRHN

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

13DFNX5

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

13HMGCL
Def
13HMSN6C

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

13IDDPN

INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY; IDDPN

13IDDSAPN

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

13IMD133

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

13NGLY1
Def
13PNRIID

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

13PNSED

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

13UCHL1
DefP:G×2

Sensorimotor neuropathy

13OPA1
DefP:G×4

Sensorimotor neuropathy

13HYCC1
Def

Polyneuropathy

13AFG3L2
DefP:G×2

Peripheral neuropathy

13COA7
DefP:G×2

Demyelinating sensory neuropathy

13HSPB8
DefP:G×2

Peripheral neuropathy

12POLR3B
DefP:G

Demyelinating peripheral neuropathy

12RAI1
Def

Peripheral neuropathy

12VRK1
P:G×2

Motor axonal neuropathy

12ATP13A2
DefP:G

Peripheral axonal neuropathy

12NARS1
Mod
12BAG3
DefSFP:G×2

Demyelinating peripheral neuropathy

12SAMD9L
DefP:G

Sensory axonal neuropathy

12RCC1
P:G×2

Motor axonal neuropathy

11SCO2
DefP:G

Motor axonal neuropathy

11AGXT
DefP:G×2

Peripheral neuropathy

11COX10
Def
11CPOX
DefP:G×2

Peripheral neuropathy

11DEGS1
DefP:G×2

Demyelinating peripheral neuropathy

11GJC2
DefP:G×2

Demyelinating motor neuropathy

11HINT1
DefP:G×2

Sensory axonal neuropathy

11MAG
DefP:G×2

Peripheral neuropathy

11NAGA
DefP:G×2

Peripheral axonal neuropathy

11POLR3A
DefP:G×2

Peripheral neuropathy

11TDP1
P:G×2

Peripheral axonal neuropathy

11DMXL2
LimP:G

Peripheral neuropathy

11SPTAN1
DefP:G

Peripheral neuropathy

11GBE1
Def#16

Peripheral axonal neuropathy

10KRAS
DefP:R×2

Peripheral axonal neuropathy

10CCT5
P:R×2

Distal sensory impairment of all modalities

10BRAF
DefP:R×2

Peripheral axonal neuropathy

10GAREM2
10MYH14
ModP:G×2

Peripheral neuropathy

10POLGARF
10SLC5A7
ModP:G×2

Peripheral neuropathy

10TNFAIP3
10ITPR1
DefP:R×2

Peripheral neuropathy

10EMILIN1
DefP:G

Peripheral neuropathy

10NDC1
P:G×2

Polyneuropathy

10REEP1
P:G×2

Peripheral neuropathy

10ALDH18A1
DefP:A

Motor polyneuropathy

9ABCC8
Def

Polyneuropathy

9CDRT15
9CDRT4
9HS3ST3B1
9TEKT3
9TVP23C
9TVP23C-CDRT4
9DGUOK
DefP:A×2

Peripheral axonal neuropathy

9SUCLA2
DefP:A×2

Peripheral neuropathy

8HSD17B4
Def

Sensorimotor neuropathy

8PDSS1
ModP:A

Peripheral neuropathy

8CD59
P:G×2

Polyneuropathy

8KLC2
P:R×2
8PIGB
ModP:G

Sensorimotor neuropathy

8TBCE
ModP:G

Peripheral axonal neuropathy

Possible

49 genes — click to expand
8KLC4

Polyneuropathy

8COX18
P:G

Polyneuropathy

7CAPN1
P:G

Peripheral neuropathy

7DHX9
P:G

Peripheral axonal neuropathy

7UQCRC1
DisP:A

Polyneuropathy

7HECW2
Def
7MT-ATP6
Def
7MT-ND3
Def
7MT-ND5
Def
7MT-RNR1
Def
7YARS1
Def
7WARS1
Lim

Motor axonal neuropathy

6KIF1B
No P:R×2

Peripheral axonal neuropathy

6RNF216
6TBC1D24
Def

Polyneuropathy

5ERBB2

Peripheral axonal neuropathy

5FMR1
Def

Peripheral neuropathy

5HMSN6A

NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY; HMSN6A

5PNMHH

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

5SARS1
Lim
5ERBB3
P:R×2

Peripheral neuropathy

5COG8
Def

Chronic axonal neuropathy

5GNPTAB
Def

Motor polyneuropathy

5LAMA2
Def

Sensorimotor neuropathy

5MOGS
Def

Demyelinating peripheral neuropathy

5CTSD
Def

Sensory axonal neuropathy

4SNAP29

Polyneuropathy

4DCAF17
Def

Peripheral neuropathy

4CDRT3
4CDRT7
4CDRT8
4FBXW10B
4GPN2
4HSPB3
P:R×2

Peripheral neuropathy

4LROMI1
4MGC12916
4PYCR2
4SPG21
P:R×2

Peripheral neuropathy

4STAG3
4DDHD1
Def

Peripheral axonal neuropathy

4TIMMDC1
Def

Peripheral neuropathy

4BCKDK
Def

Polyneuropathy

4ATXN1

Peripheral neuropathy

4ATXN8

Peripheral neuropathy

3MYD88

Polyneuropathy

3FGA
Def

Peripheral neuropathy

3MICU1
Def

Peripheral axonal neuropathy

3MPC1
Def

Peripheral neuropathy

3SGPL1
Def

Peripheral neuropathy

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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.