Genes associated with “peripheral neuropathy”

Diagnostic yield calculator →
246 genes foundHPO: Peripheral neuropathy5 PanelApp panels
Some sources returned errors (1)

openTargets: Error: OT search: 403

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

40 genes
1
46
score
ClinGen: DefinitivePanel: Green (2) ↑GTR ↑
Frequency
-
P/LP Variants
5
OT Score
-
2
36
score
ClinGen: DefinitivePanel: Green (2) ↑GTR ↑

Peripheral axonal neuropathy

Frequency
100%
n=2
P/LP Variants
6
OT Score
-
3
36
score
ClinGen: DefinitivePanel: Green ↑GTR ↑

Peripheral neuropathy

Frequency
100%
n=1
P/LP Variants
4
OT Score
-
4
34
score
ClinGen: DefinitivePanel: Green (3) ↑P2G #15GTR ↑
Frequency
-
P/LP Variants
20
OT Score
-
5
32
score
ClinGen: DefinitivePanel: Green (2) ↑GTR ↑

Sensory neuropathy

Frequency
-
P/LP Variants
1
OT Score
-
6
32
score
ClinGen: DefinitivePanel: Green (2) ↑GTR ↑

Peripheral neuropathy

Frequency
100%
n=34
P/LP Variants
7
OT Score
-
7
32
score
ClinGen: DefinitivePanel: Green (2) ↑GTR ↑

Peripheral axonal neuropathy

Frequency
100%
n=8
P/LP Variants
-
OT Score
-
8
31
score
ClinGen: DefinitivePanel: Green (2) ↑P2G #10GTR ↑

Progressive peripheral neuropathy

Frequency
-
P/LP Variants
57
OT Score
-
9
30
score
ClinGen: DefinitivePanel: Green (2) ↑P2G #13GTR ↑

Peripheral neuropathy

Frequency
-
P/LP Variants
17
OT Score
-
28MORC2
DefP:G×2

Peripheral axonal neuropathy

28SPTLC1
DefP:G×2

Chronic axonal neuropathy

27FAH
DefP:G×2

Episodic peripheral neuropathy

26DNMT1
DefP:G×2

Sensory neuropathy

26HSPB1
DefP:G×2

Peripheral neuropathy

26WNK1
DefP:G×2

Peripheral neuropathy

26PRPS1
DefP:G×2#5

Peripheral neuropathy

26SPG11
DefP:G×2

Motor polyneuropathy

25SPTBN4
DefP:G×2

Motor axonal neuropathy

25MPV17
DefP:G×2

Polyneuropathy

25PNPLA6
DefP:G×2

Peripheral neuropathy

24GALC
DefP:G×2#12

Sensorimotor neuropathy

24NEFH
DefP:G×3

Sensory axonal neuropathy

23TRPV4
DefP:G×2

Motor polyneuropathy

23POLG
LimP:G×3

Sensory ataxic neuropathy

23NEMF
StrP:G
23PHYH
DefP:G×2#2

Sensorimotor neuropathy

23AIFM1
DefP:G×2

Sensory axonal neuropathy

23ATL1
DefP:G×2

Peripheral axonal neuropathy

23KIF5A
DefP:G×2
22PEX7
DefP:G×2#4

Sensorimotor neuropathy

22GJB1
DefP:G×2

Peripheral neuropathy

22PMM2
DefP:G×2

Polyneuropathy

22NGF
StrP:G×2

Peripheral neuropathy

21ABCA1
P:G×2
21VPS13A
P:G×2#6

Peripheral axonal neuropathy

21HADHA
DefP:G×2
21HADHB
DefP:G×2
21VPS13D
LimP:G
21SLC12A6
P:G×2

Motor axonal neuropathy

20COQ7
StrP:G

Polyneuropathy

Consider

104 genes
19SH3TC2
DefP:G×2

Constrictive median neuropathy

19EGR2
DefP:G×2

Peripheral neuropathy

19SBF1
ModP:G×2
19HMBS
DefP:G×2

Sensorimotor neuropathy

19MYH14
ModP:G×2

Peripheral neuropathy

19FDXR
DefP:G×2

Polyneuropathy

19PSAP
Def

Peripheral axonal neuropathy

18PPOX
StrP:G×2

Sensory neuropathy

17ABCD1
DefP:G

Polyneuropathy

16ERCC6
DefP:G×2

Peripheral neuropathy

16SCO2
DefP:G

Motor axonal neuropathy

16ATAD3A
P:G×2

Peripheral axonal neuropathy

16CTDP1
P:G×2
16TTR
DefSFP:G×2

Peripheral axonal neuropathy

16FXN
DefP:G×3
16NGLY1
Def

Peripheral neuropathy

15AMACR
DefP:G

Sensorimotor neuropathy

15CADM3
ModP:G

Peripheral neuropathy

15TRMT5
DefP:G

Peripheral neuropathy

15MPZ
DefP:G×2

Peripheral neuropathy

15TUBB3
DefP:G×2
15COMP
Def

Constrictive median neuropathy

15KIF1A
DefP:G×2

Peripheral axonal neuropathy

15NEFL
DefP:G×2

Sensorimotor neuropathy

15FLVCR1
DefP:G×2

Sensory neuropathy

14MFN2
DefP:G×3

Peripheral neuropathy

14OPA1
DefP:G×4

Sensory axonal neuropathy

14RRM2B
13DARS2
DefP:G×2

Motor axonal neuropathy

13LITAF
DefP:G×2

Polyneuropathy

13PEX10
DefP:G×2

Motor axonal neuropathy

13TWNK
DefP:G×2

Sensory axonal neuropathy

13ACCPN

AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY; ACCPN

13CFEOM3A2

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

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

13PNRIID

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

13UCHL1
DefP:G×2

Sensorimotor neuropathy

13HYCC1
Def

Polyneuropathy

13COA7
DefP:G×2

Demyelinating sensory neuropathy

12RAI1
Def

Peripheral neuropathy

12VRK1
P:G×2

Motor axonal neuropathy

12ATP13A2
DefP:G

Peripheral axonal neuropathy

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

Peripheral axonal neuropathy

12CPOX
DefP:G×2

Acute episodes of neuropathic symptoms

12RCC1
P:G×2

Motor axonal neuropathy

11COX10
Def
11DEGS1
DefP:G×2

Demyelinating peripheral neuropathy

11GJC2
DefP:G×2

Sensory axonal neuropathy

11HINT1
DefP:G×2

Sensory axonal neuropathy

11MAG
DefP:G×2

Peripheral neuropathy

11MME
DefP:G×2

Sensorimotor neuropathy

11NAGA
DefP:G×2

Distal sensory impairment of all modalities

11SURF1
DefP:G×2

Peripheral neuropathy

11TDP1
P:G×2

Peripheral axonal neuropathy

10KRAS
DefP:R×2

Peripheral axonal neuropathy

10ARHGAP19
P:G×2

Peripheral axonal neuropathy

10CCT5
P:R×2

Distal sensory impairment of all modalities

10NDC1
P:G×2

Peripheral neuropathy

10KLC4

Polyneuropathy

10ARSB
Def

Constrictive median neuropathy

10ADA2
DefP:G

Peripheral neuropathy

10BRAF
DefP:R×2

Peripheral axonal neuropathy

10COX6A1
StrP:G×2

Peripheral neuropathy

10GAREM2
10SLC5A7
ModP:G×2

Peripheral neuropathy

10TNFAIP3
10EMILIN1
DefP:G

Sensorimotor neuropathy

10DMXL2
LimP:G

Polyneuropathy

10PDYN
LimP:G×2

Polyneuropathy

10REEP1
P:G×2

Peripheral neuropathy

10ALDH18A1
DefP:A

Motor polyneuropathy

10ATP1A3
DefP:G

Peripheral axonal neuropathy

9MT-ATP6
Def
9MT-ND3
Def
9MT-ND5
Def
9ABCC8
Def

Polyneuropathy

9CDRT15
9CDRT4
9HS3ST3B1
9TEKT3
9TVP23C
9TVP23C-CDRT4
9KLC2
P:R×2

Sensory axonal neuropathy

9POLR3B
DefP:G

Peripheral neuropathy

9SUCLA2
DefP:A×2

Peripheral neuropathy

9ATP7B
DefSF

Polyneuropathy

8HSD17B4
Def

Sensorimotor neuropathy

8CAPRIN1
Mod

Peripheral axonal neuropathy

8PDSS1
ModP:A

Peripheral neuropathy

8CD59
P:G×2

Polyneuropathy

8PIGB
ModP:G

Sensorimotor neuropathy

8PNPT1
ModP:G

Sensory neuropathy

8POLGARF
8TBCE
ModP:G

Peripheral axonal neuropathy

8TTBK2
P:R×2

Possible

80 genes — click to expand
7KCNJ10
Def

Chronic axonal neuropathy

7UQCRC1
DisP:A

Polyneuropathy

7HECW2
Def
7MAP2K1
DefP:R×2

Peripheral axonal neuropathy

7MT-CO1
Def
7MT-CO2
Def
7MT-CO3
Def
7MT-ND4
Def
7MT-ND6
Def
7MT-RNR1
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
7TUBGCP6
Def
7YARS1
Def
7WARS1
Lim

Motor axonal neuropathy

6RNF216
6EDNRB
Mod

Polyneuropathy

6BORCS8
P:G

Peripheral neuropathy

6MT-ND2
Mod
6MT-TD
Mod
6MT-TG
Mod
6MT-TR
Mod
6SLC5A6
P:G

Peripheral neuropathy

6TBC1D24
Def

Polyneuropathy

5MT-ATP8
Lim
5MT-ND4L
Lim
5MT-TC
Lim
5PNMHH

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

5PNSED

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

5SARS1
Lim
5ERBB3
P:R×2

Peripheral neuropathy

5PRICKLE1
Lim

Sensory axonal neuropathy

5COG8
Def

Chronic axonal neuropathy

5SERPING1
Def

Peripheral axonal neuropathy

4SNAP29

Polyneuropathy

4PPP2R2B

Sensorimotor neuropathy

4ADM2
4CDRT3
4CDRT7
4CDRT8
4CHKB-CPT1B
4CHKB-DT
4CIMAP1B
4CPT1B
No
4DCAF8
P:R×2

Peripheral axonal neuropathy

4DENND6B
4FBXW10B
4GPN2
4HDAC10
4HSPB3
P:R×2

Peripheral neuropathy

4KLHDC7B
4KLHDC7B-DT
4LMF2
4LROMI1
4MAPK11
4MAPK12
4MAPK8IP2
4MGC12916
4NCAPH2
4PLXNB2
4PPP6R2
4PYCR2
4SELENOO
4SPG21
P:R×2

Peripheral neuropathy

4STAG3
4SYCE3
4PEX16
Def

Peripheral neuropathy

4ATXN1

Peripheral neuropathy

3PTRHD1

Sensory axonal neuropathy

3ELOVL5

Peripheral axonal neuropathy

3FGA
Def

Peripheral neuropathy

3MICU1
Def

Peripheral axonal neuropathy

3NOTCH3
Def

Peripheral neuropathy

3RMND1
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.