Genes associated with “muscle weakness”

Diagnostic yield calculator →
256 genes foundHPO: Muscle weaknessOpen Targets: Muscle weakness4 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

12 genes
1
DMD →

dystrophin

38
score
ClinGen: DefinitivePanel: Green ↑GTR ↑
Frequency
-
P/LP Variants
129
OT Score
0.49
2
DYSF →

dysferlin

34
score
ClinGen: DefinitivePanel: Green ↑GTR ↑

Proximal muscle weakness

Frequency
-
P/LP Variants
39
OT Score
0.48
3
ANO5 →

anoctamin 5

32
score
ClinGen: DefinitivePanel: Green ↑GTR ↑
Frequency
-
P/LP Variants
6
OT Score
0.43
4
30
score
ClinGen: ModerateACMG SFPanel: Green (3) ↑P2G #8GTR ↑
Frequency
-
P/LP Variants
85
OT Score
-
5
30
score
ClinGen: DefinitivePanel: Green (3) ↑P2G #3GTR ↑

Episodic flaccid weakness

Frequency
100%
n=2
P/LP Variants
1
OT Score
-
6
COL6A2 →

collagen type VI alpha 2 chain

29
score
ClinGen: DefinitiveGTR ↑

Proximal muscle weakness

Frequency
100%
n=11
P/LP Variants
2
OT Score
0.47
7
25
score
ClinGen: DefinitiveACMG SFPanel: Green ↑GTR ↑

Diaphragmatic paralysis

Frequency
-
P/LP Variants
22
OT Score
-
8
TANGO2 →

transport and golgi organization 2 homolog

24
score
Panel: Green ↑GTR ↑
Frequency
-
P/LP Variants
5
OT Score
0.48
9
CAPN3 →

calpain 3

24
score
ClinGen: DefinitiveGTR ↑

Lower limb muscle weakness

Frequency
33%
n=6
P/LP Variants
15
OT Score
0.52
23KCNA1
DefP:G×2

potassium voltage-gated channel subfamily A member 1

22PYGM
DefP:G×3
21LAMP2
DefP:G

Proximal muscle weakness

Consider

71 genes
18LAMA2
Def

Gowers sign

18MTM1
Def
16TK2
DefP:G

Proximal muscle weakness

16ETFDH
DefP:G

Muscle weakness

16KCNJ2
ModP:G×2
16FKTN
DefP:R
16COL6A1
Def

Respiratory insufficiency due to muscle weakness

16TTN
DefSF

Proximal muscle weakness

15PHKA1
DefP:G
15SUCLA2
DefP:G
15FLNC
DefSF
15PHKB
DefP:R
15DYNC1H1
Def
15RRM2B
P:G
15COL6A3
Def

Proximal muscle weakness

14KCNQ2
DefP:R

potassium voltage-gated channel subfamily Q member 2

14LMNA
DefSF
13ALPL
Def
13CARDAR

CARDIAC ARRHYTHMIA SYNDROME, WITH OR WITHOUT SKELETAL MUSCLE WEAKNESS; CARDAR

13CHCHD10
Def
13ETFA
DefP:G
13SGCA
DefP:G
13SYNE1
Def
12POLG
LimP:G

Respiratory insufficiency due to muscle weakness

11ABCD1
Def

Lower limb muscle weakness

11GDAP1
Def

Lower limb muscle weakness

11RBCK1
DefP:G

Muscle weakness

11POMT1
Def#18

Facial palsy

11CAV3
DefP:G

Neck flexor weakness

11PMM2
Def

Muscle weakness

11VCP
Def

Pelvic girdle muscle weakness

10EGR2
Def

Foot dorsiflexor weakness

10TNPO3
Def

Distal muscle weakness

10TAMM41
ModP:G

Proximal muscle weakness

10SNUPN
Str

Proximal upper limb muscle weakness

10KCNH2
DefSF

potassium voltage-gated channel subfamily H member 2

10KCNA2
Def

potassium voltage-gated channel subfamily A member 2

10KCNB1
Def

potassium voltage-gated channel subfamily B member 1

10KCNC1
Def

potassium voltage-gated channel subfamily C member 1

10KCNC2
Def

potassium voltage-gated channel subfamily C member 2

10KCNC3
Def

potassium voltage-gated channel subfamily C member 3

10KCNH1
Def

potassium voltage-gated channel subfamily H member 1

10KCNH5
Def

potassium voltage-gated channel subfamily H member 5

10KCNQ1
DefSF

potassium voltage-gated channel subfamily Q member 1

10KCNQ3
Def

potassium voltage-gated channel subfamily Q member 3

10KCNQ4
Def

potassium voltage-gated channel subfamily Q member 4

10KCNV2
Def

potassium voltage-gated channel modifier subfamily V member 2

10SLC52A3
Def

Facial palsy

10CHAT
Def

choline O-acetyltransferase

10SPTLC1
Def

Distal muscle weakness

10DNM2
Def

Neck muscle weakness

9SMCHD1
Def

structural maintenance of chromosomes flexible hinge domain containing 1

9COL7A1
Def

collagen type VII alpha 1 chain

9PHKG2
Def
9PHKA2
9MTMR2
Def

Proximal muscle weakness

9MYH7
DefSF

Muscle weakness

9ABHD5
DefP:G

Muscle weakness

9FLAD1
DefP:G

Proximal muscle weakness

9PNPLA2
DefP:G

Neck muscle weakness

9SIL1
DefP:G

Progressive muscle weakness

9KCND2
Mod

potassium voltage-gated channel subfamily D member 2

9ACTA1
Def

Neck flexor weakness

9INF2
Def

Distal muscle weakness

9RAB7A
Def

Distal lower limb muscle weakness

9VAPB
Def

Proximal muscle weakness

8SNAP29

Poor head control

8MFN2
Def

Proximal muscle weakness

8PPOX
Str
8ATP2A1
P:G×2

Muscle weakness

8TRDN
DefSF

Cardiac arrhythmia syndrome, with or without skeletal muscle weakness

Possible

128 genes — click to expand
8SPG7
Def

Muscle weakness

8SLC52A2
Def

Facial palsy

8SLC25A20
Def

Muscle weakness

8PGK1
P:G

Muscle weakness

7SETX
Def

Distal muscle weakness

7PRX
Def

Distal muscle weakness

7MPZ
Def

Distal muscle weakness

7GAN
Def

Facial palsy

7HSPB8
Def

Proximal upper limb muscle weakness

7TNNT1
Def

Progressive muscle weakness

7TRAPPC6B
Def

Muscle weakness

7TCIRG1
Def

Facial palsy

7NEFL
Def

Facial palsy

7DST
Def
7HNRNPH1
Def
7SGCG
Def
7TBCD
Def
7ERCC8
Def

Muscle weakness

7SLC35A2
Def

Poor head control

7KCNA4

potassium voltage-gated channel subfamily A member 4

7KCNA3

potassium voltage-gated channel subfamily A member 3

7KCNA10

potassium voltage-gated channel subfamily A member 10

7KCNA5

potassium voltage-gated channel subfamily A member 5

7KCNA6

potassium voltage-gated channel subfamily A member 6

7KCNA7

potassium voltage-gated channel subfamily A member 7

7KCNB2

potassium voltage-gated channel subfamily B member 2

7KCNC4

potassium voltage-gated channel subfamily C member 4

7KCND1

potassium voltage-gated channel subfamily D member 1

7KCND3
Dis

potassium voltage-gated channel subfamily D member 3

7KCNF1

potassium voltage-gated channel modifier subfamily F member 1

7KCNG1

potassium voltage-gated channel modifier subfamily G member 1

7KCNG2

potassium voltage-gated channel modifier subfamily G member 2

7KCNG3

potassium voltage-gated channel modifier subfamily G member 3

7KCNG4

potassium voltage-gated channel modifier subfamily G member 4

7KCNH3

potassium voltage-gated channel subfamily H member 3

7KCNH4

potassium voltage-gated channel subfamily H member 4

7KCNH6

potassium voltage-gated channel subfamily H member 6

7KCNH7

potassium voltage-gated channel subfamily H member 7

7KCNH8

potassium voltage-gated channel subfamily H member 8

7KCNQ5

potassium voltage-gated channel subfamily Q member 5

7KCNS1

potassium voltage-gated channel modifier subfamily S member 1

7KCNS2

potassium voltage-gated channel modifier subfamily S member 2

7KCNS3

potassium voltage-gated channel modifier subfamily S member 3

7KCNV1

potassium voltage-gated channel modifier subfamily V member 1

7HSPB1
Def

Distal lower limb muscle weakness

7ERCC6
Def

Muscle weakness

7HACD1
Def

Gowers sign

7LRP12
Mod

Proximal muscle weakness

7SMPX
Def

Distal upper limb muscle weakness

7AHDC1
Def

Poor head control

7PMP22
Def

Limb muscle weakness

6FDX2
P:G

Muscle weakness

6POLG2
P:G

Facial palsy

6BICD2

Proximal lower limb muscle weakness

6NEFH
Def

Upper limb muscle weakness

6VWA1

Proximal lower limb muscle weakness

5INPP4A

Upper limb muscle weakness

5AFG3L2
Def

Lower limb muscle weakness

5NDE1
Def

Poor head control

5STAC3
Def

Gowers sign

5BTHLM1A

BETHLEM MYOPATHY 1A; BTHLM1A

5BTHLM1B

BETHLEM MYOPATHY 1B; BTHLM1B

5BTHLM1C

BETHLEM MYOPATHY 1C; BTHLM1C

5CMS1B

MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL; CMS1B

5CMS4C

MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS4C

5CMYO2C

CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT; CMYO2C

5FSHD1

Facioscapulohumeral muscular dystrophy 1

5FSHD2

FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2, DIGENIC; FSHD2

5HMBS
Def

Muscle weakness

5LGMDR8

MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8; LGMDR8

5MFM2A

MYOPATHY, MYOFIBRILLAR, 2A, ADULT-ONSET; MFM2A

5NEM2

NEMALINE MYOPATHY 2; NEM2

5NEM6

NEMALINE MYOPATHY 6; NEM6

5OPDM1

OCULOPHARYNGODISTAL MYOPATHY 1; OPDM1

5PLP1
Def

Lower limb muscle weakness

5SMAJI

SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI

5TMEM126B
Def

Proximal muscle weakness

5COX18

Distal lower limb muscle weakness

5FDXR
Def

Proximal muscle weakness

5FUCA1
Def

Muscle weakness

5MBTPS1
Def

Muscle weakness

5MPV17
Def

Muscle flaccidity

5PSAP
Def

Muscle weakness

5SPTAN1
Def

Distal muscle weakness

5SPTBN2
Def

Poor head control

4SLC5A7
Mod

Fatigable weakness

4GOSR2
Def

Muscle weakness

4IBA57
Def

Generalized muscle weakness

4BET1
4CTDP1
4GH-LCR
4SMN2
4SYNE2
4BAG3
DefSF

Distal muscle weakness

4RNF170

Lower limb muscle weakness

4ANTXR1
Def

Facial palsy

4MYPN
DefSF

Gowers sign

4AP2S1

Muscle weakness

4DNA2
Mod

Gowers sign

4SNX10
Def

Facial palsy

3BICRA
Def

Facial palsy

3MICU1
Def

Gowers sign

3JPH1

Distal lower limb muscle weakness

3MYL1
Lim

Respiratory insufficiency due to muscle weakness

3TRIP4

Respiratory insufficiency due to muscle weakness

3MORC2
Def

Proximal muscle weakness

3MRPS2
Mod

Lower limb muscle weakness

3AIFM1
Def

Muscle weakness

3ALDH18A1
Def

Foot dorsiflexor weakness

3AMER1
Def

Facial palsy

3BCS1L
Def

Muscle weakness

3BIN1
Def

Distal muscle weakness

3COX10
Def

Respiratory insufficiency due to muscle weakness

3DNAJB6
Def

Pelvic girdle muscle weakness

3GARS1
Def

Distal muscle weakness

3GATM
Def

Gowers sign

3IFIH1
Def

Muscle weakness

3NARS2
Def

Muscle weakness

3PNPLA6
Def

Distal muscle weakness

3SDHA
Def

Muscle weakness

3SGCD
Def

Gowers sign

3SLC25A26
Def

Muscle weakness

3SLC25A46
Def

Muscle weakness

3TCAP
Def

Foot dorsiflexor weakness

3TPM3
Def

Distal lower limb muscle weakness

3TRPV4
Def

Foot dorsiflexor weakness

3TWNK
Def

Proximal muscle weakness

3YARS1
Def

Upper limb muscle weakness

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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.