Genes associated with “muscle weakness”

250 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

15 genes
1
ANO5 →

anoctamin 5

39
score
ClinGen: DefinitivePanel: Green ↑GTR ↑

Pelvic girdle muscle weakness

Frequency
100%
n=12
P/LP Variants
9
OT Score
0.44
2
DMD →

dystrophin

38
score
ClinGen: DefinitivePanel: Green ↑GTR ↑
Frequency
-
P/LP Variants
121
OT Score
0.49
3
DYSF →

dysferlin

34
score
ClinGen: DefinitivePanel: Green ↑GTR ↑

Lower limb muscle weakness

Frequency
-
P/LP Variants
37
OT Score
0.48
4
31
score
ClinGen: DefinitivePanel: Green (3) ↑P2G #3GTR ↑

Limb muscle weakness

Frequency
100%
n=5
P/LP Variants
1
OT Score
-
5
30
score
ClinGen: ModerateACMG SFPanel: Green (3) ↑P2G #8GTR ↑
Frequency
-
P/LP Variants
113
OT Score
-
6
26
score
ClinGen: DefinitivePanel: Green ↑GTR ↑

Distal muscle weakness

Frequency
100%
n=11
P/LP Variants
6
OT Score
-
7
25
score
ClinGen: DefinitiveACMG SFPanel: Green (3) ↑GTR ↑

Generalized muscle weakness

Frequency
100%
n=1
P/LP Variants
29
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
24
score
ClinGen: DefinitiveACMG SFP2G #32GTR ↑

Distal muscle weakness

Frequency
100%
n=11
P/LP Variants
1
OT Score
-
24GAA
DefSFP:G
23KCNA1
DefP:G×2

potassium voltage-gated channel subfamily A member 1

23COL6A2
Def

Neck flexor weakness

22PYGM
DefP:G×3
22CAPN3
Def

calpain 3

21LAMP2
DefP:G

Muscle weakness

Consider

64 genes
19CPT2
DefP:G

Muscle weakness

19KCNJ2
ModP:G×2
19FLNC
DefSF
17POMT2
Def#19

Generalized muscle weakness

16PHKA1
DefP:G

Muscle weakness

16COL6A1
Def

Proximal muscle weakness

15PHKB
DefP:R
15MPZ
Def

Distal muscle weakness

15DYNC1H1
Def
15SH3TC2
Def

Distal muscle weakness

15RRM2B
P:G
14SUCLA2
DefP:G

Facial diplegia

14SYNE1
Def

Proximal muscle weakness

14TTN
DefSF

Shoulder girdle muscle weakness

14KCNQ2
DefP:R

potassium voltage-gated channel subfamily Q member 2

14MTM1
Def
13GDAP1
Def

Proximal lower limb muscle weakness

13TGFB1
Lim

Muscle weakness

13ALPL
Def
13CARDAR

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

13CHCHD10
Def
13ETFA
DefP:G
13ETFDH
DefP:G
13TK2
DefP:G
13CYP27A1
Def#14

Lower limb muscle weakness

13SETX
Def

Distal muscle weakness

13POLG
LimP:G

Distal muscle weakness

12COL6A3
Def
12LAMA2
Def
12VCP
Def

Proximal upper limb muscle weakness

11ABCD1
Def

Lower limb muscle weakness

11LMOD3
Def

Muscle weakness

11CAV3
DefP:G

Neck flexor weakness

10EGR2
Def

Distal lower limb muscle weakness

10SNUPN
Str

Proximal lower limb muscle weakness

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

10KCNH2
DefSF

potassium voltage-gated channel subfamily H member 2

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

10SPTLC1
Def

Gowers sign

10CHAT
Def

choline O-acetyltransferase

10MMUT
Def

Muscle weakness

10DNM2
Def

Proximal muscle weakness

9SMCHD1
Def

structural maintenance of chromosomes flexible hinge domain containing 1

9NEFL
Def

Lower limb muscle weakness

9SLC52A3
Def

Generalized muscle weakness

9LRP4
Def

Muscle weakness

9OPA1
Def

Proximal muscle weakness

9AGTPBP1
Def

Muscle weakness

9MYH7
DefSF

Distal muscle weakness

9ETFB
DefP:G

Muscle weakness

9FLAD1
DefP:G

Proximal muscle weakness

9KCND2
Mod

potassium voltage-gated channel subfamily D member 2

9INF2
Def

Distal muscle weakness

8PHKA2
8TRDN
DefSF

Cardiac arrhythmia syndrome, with or without skeletal muscle weakness

Possible

129 genes — click to expand
8OPTN
Def

Muscle weakness

8FDX2
P:G

Limb-girdle muscle weakness

8ACTA1
Def

Poor head control

7HARS1
Ref

Distal muscle weakness

7SLC25A4
Def

Respiratory insufficiency due to muscle weakness

7NDRG1

Distal muscle weakness

7PLEKHG5
Def

Distal muscle weakness

7HMGCR
Mod

Proximal muscle weakness

7DST
Def
7HNRNPH1
Def
7PHKG2
Def
7ERCC8
Def

Muscle weakness

7ABCD3
Lim

Distal upper limb muscle weakness

7KCNA4

potassium voltage-gated channel subfamily A member 4

7KCNA10

potassium voltage-gated channel subfamily A member 10

7KCNA3

potassium voltage-gated channel subfamily A member 3

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

7CNTN1

Muscle weakness

7PMP22
Def

Foot dorsiflexor weakness

6MYPN
DefSF

Muscle weakness

6FBLN5
Mod

Distal upper limb muscle weakness

6VWA1

Distal lower limb muscle weakness

6MPV17
Def

Distal muscle weakness

6PABPN1

Facial palsy

6PPOX
Str
6RETREG1
Def

Lower limb muscle weakness

6TNNT1
Def

Proximal muscle weakness

5ITPR1
Def

Poor head control

5SPTLC2
Def

Distal upper limb muscle weakness

5STAC3
Def

Gowers sign

5TRIM32
Def

Proximal muscle weakness

5TUBB6

Facial palsy

5PRKACA

Proximal muscle weakness

5VPS13A

Limb muscle weakness

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

5FBN1
DefSF

Muscle weakness

5FSHD1

Facioscapulohumeral muscular dystrophy 1

5FSHD2

FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2, DIGENIC; FSHD2

5HMBS
Def

Respiratory paralysis

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

5SMAJI

SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI

5ZC4H2
Def

Muscle weakness

5GTPBP2
Def

Muscle weakness

5SBF1
Mod

Lower limb muscle weakness

5UNC45B

Proximal muscle weakness

5COX18

Distal lower limb muscle weakness

5ACBD5
Def

Gowers sign

5CHRNB1
Def

Poor head control

5FDXR
Def

Proximal muscle weakness

5IFT140
Def

Poor head control

5SGCD
Def

Proximal muscle weakness

5SYT2
Mod

Distal muscle weakness

5SMPX
Def

Proximal lower limb muscle weakness

4SKI
Def

Abdominal wall muscle weakness

4ARHGAP19

Distal muscle weakness

4SIGMAR1

Lower limb muscle weakness

4SMN1

Proximal muscle weakness

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

Lower limb muscle weakness

4LIPE
Def

Muscle weakness

4TNPO3
Def

Respiratory insufficiency due to muscle weakness

4MORC2
Def

Wrist drop

4PEX5
Def

Muscle weakness

4RARS1
Def

Poor head control

4COL12A1

Proximal muscle weakness

4DNMT1
Def

Distal muscle weakness

4NDUFA8
Mod

Poor head control

4PMP2
Mod

Distal muscle weakness

3ADSS1

Distal lower limb muscle weakness

3ALG14
Lim

Fatigable weakness

3JPH1

Proximal upper limb muscle weakness

3TRIP4

Axial muscle weakness

3PIEZO2

Upper limb muscle weakness

3ACOX1
Def

Limb muscle weakness

3ACTN2
Def

Distal muscle weakness

3BCS1L
Def

Muscle weakness

3BIN1
Def

Gowers sign

3CYP27B1
Def

Abdominal wall muscle weakness

3DARS2
Def

Muscle weakness

3DES
DefSF

Bulbar palsy

3DNAJB6
Def

Pelvic girdle muscle weakness

3ERLIN2
Def

Upper limb muscle weakness

3FARS2
Def

Upper limb muscle weakness

3HSPB8
Def

Paresis of extensor muscles of the big toe

3MFN2
Def

Distal muscle weakness

3MTHFR
Def

Muscle weakness

3NDUFS4
Def

Poor head control

3NEB
Def

Proximal muscle weakness

3NEFH
Def

Proximal muscle weakness

3SCO2
Def

Muscle weakness

3SPG11
Def

Lower limb muscle weakness

3TCAP
Def

Foot dorsiflexor weakness

3TIMM50
Def

Muscle weakness

3TPM2
Def

Limb muscle weakness

3TRAPPC11
Def

Gowers sign

3TRPV4
Def

Diaphragmatic 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.