Genes associated with “muscle weakness”

Diagnostic yield calculator →
199 genes foundHPO: Muscle weakness4 PanelApp panels
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

11 genes
1
35
score
ClinGen: DefinitivePanel: Green (3) ↑P2G #3GTR ↑

Fatigable weakness

Frequency
100%
n=1
P/LP Variants
368
OT Score
-
2
35
score
ClinGen: DefinitivePanel: Green ↑GTR ↑

Proximal muscle weakness

Frequency
100%
n=32
P/LP Variants
38
OT Score
-
3
30
score
ClinGen: DefinitivePanel: Green ↑GTR ↑
Frequency
-
P/LP Variants
58
OT Score
-
4
28
score
ClinGen: DefinitiveACMG SFPanel: Green ↑GTR ↑

Lower limb muscle weakness

Frequency
100%
n=2
P/LP Variants
191
OT Score
-
5
26
score
ClinGen: ModerateACMG SFPanel: Green (3) ↑P2G #8GTR ↑
Frequency
-
P/LP Variants
2
OT Score
-
6
26
score
ClinGen: DefinitivePanel: Green ↑GTR ↑

Distal muscle weakness

Frequency
100%
n=11
P/LP Variants
6
OT Score
-
7
23
score
ClinGen: DefinitivePanel: Green ↑GTR ↑

Proximal muscle weakness

Frequency
100%
n=1
P/LP Variants
-
OT Score
-
8
22
score
ClinGen: DefinitivePanel: Green (2) ↑GTR ↑

Poor head control

Frequency
100%
n=2
P/LP Variants
1
OT Score
-
9
22
score
ClinGen: DefinitivePanel: Green (3) ↑GTR ↑
Frequency
-
P/LP Variants
18
OT Score
-
21CLCN1
P:G×2

Muscle weakness

21LAMP2
DefP:G

Distal muscle weakness

Consider

61 genes
20ATP7A
Def
19GBE1
DefP:G#6

Muscle weakness

19MTM1
Def

Generalized muscle weakness

19LMNA
DefSF

Limb-girdle muscle weakness

17SNUPN
Str

Proximal upper limb muscle weakness

17COL6A1
Def

Neck muscle weakness

16COL6A3
Def
16COL6A2
Def
16FKTN
DefP:R
16TTN
DefSF

Proximal muscle weakness

16CACNA1A
P:G×2

Muscle weakness

15PHKA1
DefP:G
15FLNC
DefSF
15PHKB
DefP:R
15SLC22A5
DefP:G

Proximal muscle weakness

15RRM2B
P:G
15LAMA2
Def

Proximal lower limb muscle weakness

14KCNJ2
ModP:G×2
14LPIN1
DefP:G

Muscle weakness

13ALPL
Def
13CAPN3
Def
13ETFA
DefP:G
13ETFDH
DefP:G
13SGCA
DefP:G
13SUCLA2
DefP:G
13TK2
DefP:G
13TUBB3
DefP:G
13CYP27A1
Def#14

Lower limb muscle weakness

13PABPN1
12CAV3
DefP:G

Gowers sign

12SYNE1
Def
12NF1
Def

Muscle weakness

12RYR1
DefSFP:G×3

Facial palsy

12GMPPB
DefP:G

Limb-girdle muscle weakness

12PRPS1
Def

Distal muscle weakness

11HSPB1
Def

Distal muscle weakness

11SBF2
Def

Distal muscle weakness

11SPG11
Def

Distal muscle weakness

11PHKG2
Def
11DYNC1H1
Def
11POMT1
Def#18

Facial palsy

11ISCU
DefP:G

Distal muscle weakness

11VCP
Def

Proximal muscle weakness

10PHKA2
10POMGNT1
Def

Muscle weakness

10GYG1
DefP:G

Peroneal muscle weakness

10SPTLC1
Def

Distal muscle weakness

9POLG
LimP:G

Muscle weakness

9MYH7
DefSF

Neck muscle weakness

9ABHD5
DefP:G

Muscle weakness

9FLAD1
DefP:G

Proximal muscle weakness

9PNPLA2
DefP:G

Gowers sign

9EGR2
Def

Distal muscle weakness

9SMPD1
Def

Muscle weakness

9SLC52A3
Def

Diaphragmatic weakness

9CLCN7
Def

Facial palsy

9ANXA11
Def

Proximal upper limb muscle weakness

9TTR
DefSF

Muscle weakness

8SMPX
Def

Distal lower limb muscle weakness

8GDAP1
Def

Proximal muscle weakness

8PPOX
Str

Possible

99 genes — click to expand
8SLC52A2
Def

Bulbar palsy

8HYCC1
Def

Lower limb muscle weakness

8FBXO38
Mod

Proximal muscle weakness

8ACTA1
Def

Poor head control

7PRX
Def

Limb muscle weakness

7MPZ
Def

Respiratory insufficiency due to muscle weakness

7TRPV4
Def

Proximal upper limb muscle weakness

7ASAH1
Def

Proximal muscle weakness

7HSPB8
Def

Proximal upper limb muscle weakness

7NEFL
Def

Proximal muscle weakness

7DST
Def
7HNRNPH1
Def
7NDUFS1
Def
7NDUFS6
Def
7SGCG
Def
7TBCD
Def
7DNM2
Def

Facial palsy

7AHDC1
Def

Poor head control

7GJA1
Lim

Facial palsy

7SALL4

Facial palsy

6C19ORF12
Def

Muscle weakness

6CRPPA
Def

Lower limb muscle weakness

6KIF5A
Def

Lower limb muscle weakness

6BCL2L2-PABPN1
6SPRED2
6POLG2
P:G

Facial palsy

6CRLF1

Facial palsy

6DNAJB2
Def

Foot dorsiflexor weakness

6GIPC1

Bulbar palsy

6GGPS1

Progressive muscle weakness

6GNAO1
Def

Poor head control

6MORC2
Def

Foot dorsiflexor weakness

5AFG3L2
Def

Lower limb muscle weakness

5CFL2
Def

Gowers sign

5MPV17
Def

Foot dorsiflexor weakness

5PIGA
Def

Poor head control

5PUS1
Def

Muscle weakness

5STAC3
Def

Gowers sign

5TPM2
Def

Proximal muscle weakness

5TRMT5
Def

Muscle weakness

5PYROXD1
Def

Gowers sign

5SYT2
Mod

Foot dorsiflexor weakness

5RTN2

Foot dorsiflexor weakness

5FBN1
DefSF

Muscle weakness

5ZC4H2
Def

Facial palsy

5TMEM126B
Def

Proximal muscle weakness

5YARS2
Def

Muscle weakness

5COX18

Distal lower limb muscle weakness

5CHRNB1
Def

Fatigable weakness

5COX10
Def

Muscle weakness

5GTPBP2
Def

Poor head control

5MBTPS1
Def

Muscle weakness

5MEGF10
Def

Neck flexor weakness

5MFN2
Def

Progressive muscle weakness

5MUSK
Def

Axial muscle weakness

5OPA1
Def

Poor head control

5PNPLA8
Def

Proximal muscle weakness

5SPTAN1
Def

Distal muscle weakness

4DDHD2

Distal lower limb muscle weakness

4COX20
Def

Foot dorsiflexor weakness

4ITPR1
Def

Proximal muscle weakness

4BET1
4CTDP1
4NCAM1
4SMN2
4SYNE2
4BAG3
DefSF

Distal muscle weakness

4CHRNA1
Def

Lower limb muscle weakness

4CNNM2
Def

Muscle weakness

4HNRNPA1

Proximal lower limb muscle weakness

4STAT1
Def

Muscle weakness

4SORD
Def

Proximal lower limb muscle weakness

3RALGAPA1

Poor head control

3LRP12
Mod

Upper limb muscle weakness

3ACOX1
Def

Limb muscle weakness

3AGK
Def

Muscle weakness

3BOLA3
Def

Muscle weakness

3CHCHD10
Def

Bulbar palsy

3COA7
Def

Foot dorsiflexor weakness

3COX15
Def

Respiratory insufficiency due to muscle weakness

3DAG1
Def

Gowers sign

3DES
DefSF

Bulbar palsy

3DNAJC19
Def

Muscle weakness

3DOK7
Def

Bulbar palsy

3FLVCR1
Def

Distal muscle weakness

3MYH2
Def

Neck muscle weakness

3NEB
Def

Generalized muscle weakness

3PLA2G6
Def

Generalized muscle weakness

3PNPLA6
Def

Distal muscle weakness

3POPDC3
Def

Proximal muscle weakness

3SGCD
Def

Gowers sign

3TACO1
Def

Respiratory insufficiency due to muscle weakness

3TCAP
Def

Foot dorsiflexor weakness

3TGFB2
Def

Muscle weakness

3TRIM32
Def

Quadriceps muscle weakness

3TTC19
Def

Muscle weakness

3TWNK
Def

Proximal muscle weakness

3VAPB
Def

Progressive 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.