Genes associated with “Charcot-Marie-Tooth”

Diagnostic yield calculator →

80 genes found

Some sources returned errors (3)

openTargets: Error: OT search: 403

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

24 genes

1

47

score

ClinGen: DefinitiveGTR ↑

Frequency

-

P/LP Variants

15

OT Score

-

2

29

score

ClinGen: DefinitiveGTR ↑

Frequency

-

P/LP Variants

6

OT Score

-

3

28

score

ClinGen: DefinitiveGTR ↑

Frequency

-

P/LP Variants

10

OT Score

-

4

28

score

ClinGen: DefinitiveGTR ↑

Frequency

-

P/LP Variants

17

OT Score

-

5

28

score

ClinGen: DefinitiveGTR ↑

Frequency

-

P/LP Variants

16

OT Score

-

6

25

score

ClinGen: DefinitiveGTR ↑

Frequency

-

P/LP Variants

16

OT Score

-

7

25

score

ClinGen: DefinitiveGTR ↑

Frequency

-

P/LP Variants

16

OT Score

-

8

25

score

ClinGen: DefinitiveGTR ↑

Frequency

-

P/LP Variants

12

OT Score

-

9

25

score

ClinGen: DefinitiveGTR ↑

Frequency

-

P/LP Variants

27

OT Score

-

Score

Gene

Evidence

Freq

P/LP

OT

Description

Def

25

-

12

-

-

Def

25

MMEDef

-

13

-

-

Def

25

MPZDef

-

19

-

-

Def

25

-

6

-

-

Def

25

PRXDef

-

12

-

-

Def

23

-

3

-

-

Def

23

-

3

-

-

Def

23

-

3

-

-

Def

23

-

3

-

-

Def

21

-

2

-

-

Def

21

-

2

-

-

Def

21

-

20

-

-

Def

20

-

1

-

-

Def

20

-

1

-

-

Def

20

-

1

-

-

Consider

41 genes

Score

Gene

Evidence

Freq

P/LP

OT

Description

DefSF

17

LMNADefSF

-

47

-

-

Def

17

-

14

-

-

Def

16

-

9

-

-

Def

16

-

20

-

-

Def

14

-

4

-

-

Mod

14

-

3

-

-

Def

13

-

9

-

-

Def

13

-

31

-

-

Def

13

GANDef

-

13

-

-

Def

13

-

12

-

-

Def

13

-

19

-

-

13

-

15

-

-

Def

13

-

3

-

-

Def

13

-

10

-

-

Mod

12

-

2

-

-

Def

12

-

4

-

-

Def

12

-

4

-

-

Def

12

-

4

-

-

Def

11

-

3

-

-

Def

11

-

3

-

-

Def

11

-

3

-

-

Def

11

-

3

-

-

10

-

5

-

-

10ARHGAP19-SLIT1

10

-

5

-

-

10HNRNPUL2-BSCL2

10

-

9

-

-

10

-

5

-

-

10

-

3

-

-

10

-

5

-

-

Def

9

-

2

-

-

Def

9

-

2

-

-

9

-

2

-

-

9

-

4

-

-

9

-

4

-

-

9

-

4

-

-

9

-

4

-

-

9

-

4

-

-

9

-

4

-

-

9

-

4

-

-

9

-

4

-

-

9

-

4

-

-

8

-

3

-

-

Possible

15 genes — click to expand

Score

Gene

Evidence

Freq

P/LP

OT

Description

DefSF

7

BAG3DefSF

-

1

-

-

Def

7

-

1

-

-

Def

7

-

1

-

-

Def

7

-

1

-

-

Def

7

VCPDef

-

1

-

-

6

-

2

-

-

6

-

2

-

-

6

-

2

-

-

Lim

6

-

1

-

-

Lim

6

-

1

-

-

Lim

5

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

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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.