Genes associated with “peripheral neuropathy”

265 genes foundHPO: Peripheral neuropathyOpen Targets: peripheral nervous system disorder5 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

62
score
ClinGen: DefinitivePanel: Green (2) ↑GTR ↑

Peripheral neuropathy

Frequency
-
P/LP Variants
5
OT Score
0.88
2
DYNC1H1 →

dynein cytoplasmic 1 heavy chain 1

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

Peripheral axonal neuropathy

Frequency
38%
n=8
P/LP Variants
-
OT Score
0.85
3
MORC2 →

MORC family CW-type zinc finger 2

49
score
ClinGen: DefinitivePanel: Green (2) ↑GTR ↑
Frequency
-
P/LP Variants
3
OT Score
0.84
4
LYST →

lysosomal trafficking regulator

47
score
ClinGen: DefinitivePanel: Green (3) ↑P2G #15GTR ↑
Frequency
-
P/LP Variants
4
OT Score
0.86
5
POLG →

DNA polymerase gamma, catalytic subunit

45
score

Peripheral neuropathy

Frequency
100%
n=34
P/LP Variants
103
OT Score
0.88
6
ARSA →

arylsulfatase A

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

Progressive peripheral neuropathy

Frequency
-
P/LP Variants
79
OT Score
0.90
7
CYP27A1 →

cytochrome P450 family 27 subfamily A member 1

44
score
ClinGen: DefinitivePanel: Green (2) ↑P2G #13GTR ↑

Peripheral neuropathy

Frequency
-
P/LP Variants
21
OT Score
0.87
8
SCN11A →

sodium voltage-gated channel alpha subunit 11

40
score
ClinGen: DefinitivePanel: Green (2) ↑GTR ↑
Frequency
-
P/LP Variants
-
OT Score
0.89
9
NTRK1 →

neurotrophic receptor tyrosine kinase 1

40
score
ClinGen: DefinitivePanel: Green (2) ↑GTR ↑
Frequency
-
P/LP Variants
-
OT Score
0.86
40HSPB1
DefP:G×2

Peripheral neuropathy

37PLA2G6
DefP:G

phospholipase A2 group VI

36IGHMBP2
DefP:G×2

immunoglobulin mu DNA binding protein 2

34GJB1
DefP:G×2

Peripheral neuropathy

33EGR2
DefP:G×2

Peripheral neuropathy

33MFN2
DefP:G×3

Peripheral neuropathy

32GALC
DefP:G×2#12

galactosylceramidase

32SETX
DefP:G×2

Peripheral axonal neuropathy

32SCN9A
RefP:G×2#8

Peripheral neuropathy

31DNM2
DefP:G×2

dynamin 2

31ITPR3
DefP:G

Peripheral neuropathy

31TTR
DefSFP:G×2

Peripheral axonal neuropathy

30C19ORF12
DefP:G×3

Peripheral neuropathy

30PDHA1
DefP:G×2

pyruvate dehydrogenase E1 subunit alpha 1

30RFC1
DefP:R

Peripheral neuropathy

30MPZ
DefP:G×2

Peripheral neuropathy

29GDAP1
DefP:G×2

ganglioside induced differentiation associated protein 1

28PEX10
DefP:G×2

Motor axonal neuropathy

28SPTLC1
DefP:G×2

Chronic axonal neuropathy

27NEFL
DefP:G×2

neurofilament light chain

27HADHA
DefP:G×2

Peripheral neuropathy

27FAH
DefP:G×2

Episodic peripheral neuropathy

26AGTPBP1
DefP:G×2

Motor axonal neuropathy

26SLC25A46
DefP:G×3

Peripheral axonal neuropathy

26PRPS1
DefP:G×2#5

Peripheral neuropathy

25MCM3AP
DefP:G×2

Peripheral axonal neuropathy

25SPTBN4
DefP:G×2

Motor axonal neuropathy

ribonucleotide reductase regulatory TP53 inducible subunit M2B

25SPG11
DefP:G×2
25SCN10A
DisP:G×2

sodium voltage-gated channel alpha subunit 10

24NEFH
DefP:G×3

Sensory axonal neuropathy

24PEX7
DefP:G×2#4

Polyneuropathy

24MMACHC
DefP:G×2

metabolism of cobalamin associated C

24SPTLC2
DefP:G×2

Distal sensory impairment of all modalities

24ABHD12
DefP:G×2

abhydrolase domain containing 12, lysophospholipase

23PHYH
DefP:G×2#2

Sensorimotor neuropathy

23AIFM1
DefP:G×2

Sensory axonal neuropathy

23ATL1
DefP:G×2

Peripheral axonal neuropathy

23DST
DefP:G×2

Peripheral neuropathy

22DNMT1
DefP:G×2

Sensory neuropathy

22MPV17
DefP:G×2

Polyneuropathy

22HEXA
DefP:G

hexosaminidase subunit alpha

22PMM2
DefP:G×2

Polyneuropathy

22LZTR1
DefSFP:G

leucine zipper like post translational regulator 1

22NGF
StrP:G×2

Peripheral neuropathy

22HEXB
DefP:G

hexosaminidase subunit beta

22SCO2
DefP:G

Motor axonal neuropathy

22BTD
DefSFP:G

biotinidase

21VPS13A
P:G×2#6

Peripheral axonal neuropathy

21SMN1
P:G×2

survival of motor neuron 1, telomeric

21NEMF
StrP:G
21TYMP
DefP:G×2
21PNPLA6
DefP:G×2

Peripheral neuropathy

21SLC12A6
P:G×2

Motor axonal neuropathy

20AARS1
Def

Peripheral neuropathy

Consider

96 genes
19PEX5
Def

peroxisomal biogenesis factor 5

19SBF1
ModP:G×2
19KIF5A
DefP:G×2
19FDXR
DefP:G×2

Polyneuropathy

19ATAD3A
P:G×2

Peripheral axonal neuropathy

18ERCC6
DefP:G×2

Polyneuropathy

18PEX16
Def

Peripheral neuropathy

18DLD
DefP:R

dihydrolipoamide dehydrogenase

18PPOX
StrP:G×2

Sensory neuropathy

17HADHB
DefP:G×2
17PEX12
Def

Polyneuropathy

17COQ8A
P:R×2

coenzyme Q8A

16PEX6
Def

peroxisomal biogenesis factor 6

16PEX1
Def

peroxisomal biogenesis factor 1

16PEX2
Def

peroxisomal biogenesis factor 2

16PEX26
Def

peroxisomal biogenesis factor 26

16ABCA1
P:G×2
16CTDP1
P:G×2
16PEX13
Def

peroxisomal biogenesis factor 13

16PEX3
Def

peroxisomal biogenesis factor 3

16MTHFR
Def

methylenetetrahydrofolate reductase

16PEX19
Def

peroxisomal biogenesis factor 19

16OAT
Def

ornithine aminotransferase

16SMPD1
Def

sphingomyelin phosphodiesterase 1

16PEX14
Def

peroxisomal biogenesis factor 14

16COQ4
Def

coenzyme Q4

15AMACR
DefP:G

Sensorimotor neuropathy

15CADM3
ModP:G

Peripheral neuropathy

15NGLY1
Def

Peripheral neuropathy

15TUBB3
DefP:G×2
15COMP
Def

Constrictive median neuropathy

15KIF1A
DefP:G×2

Peripheral neuropathy

15RAB7A
DefP:G×2

Peripheral neuropathy

15FLVCR1
DefP:G×2

Sensory neuropathy

14OPA1
DefP:G×4

Sensory axonal neuropathy

13LITAF
DefP:G×2

Sensorimotor neuropathy

AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY; ACCPN

CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES 3A, SYNDROMIC 2, WITH JOINT CONTRACTURES, DEVELOPMENTAL DELAY, AND PERIPHERAL NEUROPATHY; CFEOM3A2

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

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

13COA7
DefP:G×2

Demyelinating sensory neuropathy

13DARS2
DefP:G×2

Peripheral neuropathy

12RAI1
Def

Peripheral neuropathy

12VRK1
P:G×2

Motor axonal neuropathy

12DRP2
P:G×2
12NARS1
Mod
12SPTAN1
DefP:G

Peripheral axonal neuropathy

12CPOX
DefP:G×2

Acute episodes of neuropathic symptoms

11COX10
Def
11GJC2
DefP:G×2

Sensory axonal neuropathy

11IARS2
DefP:G×2

Sensory neuropathy

11MAG
DefP:G×2

Peripheral neuropathy

11NAGA
DefP:G×2

Distal sensory impairment of all modalities

11TDP1
P:G×2

Peripheral axonal neuropathy

11TWNK
DefP:G×2

Sensory axonal neuropathy

11VPS13D
LimP:G
10KRAS
DefP:R×2

Peripheral axonal neuropathy

10CCT5
P:R×2

Distal sensory impairment of all modalities

10PTRH2
P:G×2

Demyelinating peripheral neuropathy

10TRMT5
DefP:G

Peripheral neuropathy

10ADA2
DefP:G

Peripheral neuropathy

10MFF
ModP:G×2

Peripheral neuropathy

10MYH14
ModP:G×2

Peripheral neuropathy

10SLC5A7
ModP:G×2

Peripheral neuropathy

10DMXL2
LimP:G

Polyneuropathy

10PDYN
LimP:G×2

Polyneuropathy

10ARHGAP19
P:G×2

Sensorimotor neuropathy

10NDC1
P:G×2

Demyelinating motor neuropathy

10REEP1
P:G×2

Peripheral neuropathy

10ALDH18A1
DefP:A

Motor polyneuropathy

9ABCC8
Def

Polyneuropathy

9AP5Z1
DefP:G

Peripheral neuropathy

9POLR3B
DefP:G

Peripheral neuropathy

9SUCLA2
DefP:A×2

Peripheral neuropathy

9DSTYK
ModP:A×2

Peripheral neuropathy

9ATP7B
DefSF

Polyneuropathy

Peripheral neuropathy

Peripheral axonal neuropathy

8PIGB
ModP:G

Peripheral axonal neuropathy

8TTBK2
P:R×2

Possible

83 genes — click to expand
8PSAP
Def

Peripheral axonal neuropathy

8HYCC1
Def

Polyneuropathy

7KCNJ10
Def

Chronic axonal neuropathy

7UQCRC1
DisP:A

Polyneuropathy

7FANCI
Def
7MAP2K1
DefP:R×2

Peripheral axonal neuropathy

7MT-CO1
Def
7MT-CO2
Def
7MT-CO3
Def
7MT-ND3
Def
7MT-ND4
Def
7MT-ND5
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
7WARS1
Lim

Motor axonal neuropathy

6EDNRB
Mod

Polyneuropathy

6FBN1
DefSF

Peripheral neuropathy

6MT-ND2
Mod
6MT-TD
Mod
6MT-TG
Mod
6MT-TR
Mod
6SCYL1
P:A×2

Sensorimotor neuropathy

Polyneuropathy

6GNB2
Mod

Peripheral axonal neuropathy

6PIK3R5
Dis

Peripheral axonal neuropathy

5COA8
Def

Sensorimotor neuropathy

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

5MT-TC
Lim

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

5ERBB3
P:R×2

Peripheral neuropathy

5COG8
Def

Chronic axonal neuropathy

5GNPTAB
Def

Constrictive median neuropathy

Peripheral axonal neuropathy

Polyneuropathy

4AMPD2
P:A

Peripheral axonal neuropathy

4CPT1B
No
4DCAF8
P:R×2

Peripheral axonal neuropathy

4HSPB3
P:R×2

Peripheral neuropathy

4KLC2
P:R×2

Sensory axonal neuropathy

4SPG21
P:R×2

Peripheral neuropathy

Sensory axonal neuropathy

3TMEM70
Def

Polyneuropathy

3EPG5
Def

Peripheral neuropathy

3FGA
Def

Peripheral neuropathy

3IDUA
Def

Constrictive median neuropathy

3MICU1
Def

Peripheral axonal neuropathy

3NOTCH3
Def

Peripheral neuropathy

3SYNE1
Def

Peripheral axonal neuropathy

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