Genes associated with “muscular dystrophy”

Diagnostic yield calculator →
115 genes foundHPO: Muscular dystrophyOpen Targets: muscular dystrophy3 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

45 genes
1
DMD →

dystrophin

63
score
ClinGen: DefinitivePanel: Green (2) ↑P2G #25GTR ↑

Muscular dystrophy

Frequency
-
P/LP Variants
71
OT Score
0.89
2
DYSF →

dysferlin

57
score
ClinGen: DefinitivePanel: Amber ↑P2G #1GTR ↑

Muscular dystrophy

Frequency
-
P/LP Variants
94
OT Score
0.88
3
LAMA2 →

laminin subunit alpha 2

53
score
ClinGen: DefinitivePanel: Green ↑P2G #9GTR ↑

Muscular dystrophy

Frequency
-
P/LP Variants
132
OT Score
0.86
4
TRAPPC11 →

trafficking protein particle complex subunit 11

51
score
ClinGen: DefinitivePanel: Green ↑GTR ↑

Limb-girdle muscular dystrophy

Frequency
100%
n=8
P/LP Variants
3
OT Score
0.82
5
POMT2 →

protein O-mannosyltransferase 2

47
score
ClinGen: DefinitivePanel: Green ↑P2G #7GTR ↑

Muscular dystrophy

Frequency
100%
n=20
P/LP Variants
3
OT Score
0.87
6
CAPN3 →

calpain 3

46
score
ClinGen: DefinitiveP2G #19GTR ↑

Muscular dystrophy

Frequency
-
P/LP Variants
23
OT Score
0.86
7
B3GALNT2 →

beta-1,3-N-acetylgalactosaminyltransferase 2

46
score
ClinGen: DefinitivePanel: Green ↑P2G #35GTR ↑

Muscular dystrophy

Frequency
-
P/LP Variants
1
OT Score
0.87
8
SGCG →

sarcoglycan gamma

45
score
ClinGen: DefinitiveP2G #33GTR ↑

Muscular dystrophy

Frequency
-
P/LP Variants
15
OT Score
0.83
9
JAG2 →

jagged canonical Notch ligand 2

45
score
ClinGen: ModeratePanel: Green ↑GTR ↑

Muscular dystrophy

Frequency
86%
n=14
P/LP Variants
14
OT Score
0.79
45LMNA
DefSFP:G#10

Muscular dystrophy

44POMT1
DefP:G#6

Muscular dystrophy

43SGCA
Def

Limb-girdle muscular dystrophy

43SGCB
Def

Muscular dystrophy

42SMCHD1
DefP:G×2

Scapulohumeral muscular dystrophy

42PLEC
DefP:G

Muscular dystrophy

42SGCD
Def

Muscular dystrophy

42POMGNT1
DefP:G#14

Muscular dystrophy

41POMGNT2
DefP:G#17

Muscular dystrophy

41LARGE1
DefP:G

Muscular dystrophy

40ANO5
DefP:R#2

Muscular dystrophy

38COL6A1
DefP:G#11

Muscular dystrophy

37COL12A1
P:G

Muscular dystrophy

37COL6A3
DefP:G#12

collagen type VI alpha 3 chain

36SYNE1
DefP:G

Muscular dystrophy

36FKRP
DefP:G#16

Muscular dystrophy

36DNAJB6
Def

Muscular dystrophy

35COL6A2
DefP:G#15

collagen type VI alpha 2 chain

34SELENON
DefP:G

Muscular dystrophy

34TRIM32
Def

Muscular dystrophy

32POGLUT1
DefP:G

Limb-girdle muscular dystrophy

31GMPPB
DefP:G

Muscular dystrophy

31TTN
DefSF

Muscular dystrophy

30FKTN
DefP:G#5

Muscular dystrophy

30INPP5K
P:G

inositol polyphosphate-5-phosphatase K

28B4GAT1
ModP:G

Muscular dystrophy

27ITGA7
P:G#13

Muscular dystrophy

27TCAP
DefP:A

Muscular dystrophy

26DAG1
DefP:G

Muscular dystrophy

26DPM3
ModP:G

Limb-girdle muscular dystrophy

24DPM2
ModP:G

dolichyl-phosphate mannosyltransferase subunit 2, regulatory

23TNPO3
Def

Muscular dystrophy

22CRPPA
Def

Limb-girdle muscular dystrophy

21FHL1
P:G

four and a half LIM domains 1

20HNRNPDL
Def#20

Limb-girdle muscular dystrophy

20SNUPN
Str

Consider

32 genes
19MYH7
DefSF

myosin heavy chain 7

18NR0B1
#3

Muscular dystrophy

17RXYLT1
Def

ribitol xylosyltransferase 1

17RYR1
DefSFP:R#4

Muscular dystrophy

15TUBB3
Def

tubulin beta 3 class III

15KIF21A
Def

kinesin family member 21A

14ACTA1
DefP:A
14LDB3
Str

LIM domain binding 3

13EBS5B

EPIDERMOLYSIS BULLOSA SIMPLEX 5B, WITH MUSCULAR DYSTROPHY; EBS5B

13FSHD3

FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3

13FSHD4

FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 4, DIGENIC; FSHD4

13LGMDR25

MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 25; LGMDR25

13LGMDR27

MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27

13MDDGA1

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1; MDDGA1

13MDDGA3

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3; MDDGA3

13MDDGA4

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4

13MDHLO

MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO

13MDRCMTT

MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE, WITH CARDIOMYOPATHY AND TRIANGULAR TONGUE; MDRCMTT

13MMD1

MIYOSHI MUSCULAR DYSTROPHY 1; MMD1

13PYROXD1
DefP:G
12CAVIN1
DefP:G

Muscular dystrophy

11MTM1
Def
10PABPN1
P:R
10DPM1
DefP:A

Muscular dystrophy

9DES
DefSF
9NEB
Def
9PNPLA2
Def
9TRIP4

Muscular dystrophy

9LAMP2
Def
8SQSTM1
Mod
8TMEM43
DefSFP:R

Muscular dystrophy

8BCL2L2-PABPN1

Possible

33 genes — click to expand
7FBN2
Def
7MYO18B
Def
7SCAF4
Def
7SCN4A
Def
7TMEM126B
Def
7TNNT1
Def
6CHKB-CPT1B
6TSPAN1
6CAV3
Def#18

Muscular dystrophy

6BET1
P:G

Muscular dystrophy

6LIPE
Def

Muscular dystrophy

6TOR1AIP1
Def

Muscular dystrophy

6BAG3
DefSF

Muscular dystrophy

5SYNE2
P:R

Muscular dystrophy

5EDMD2

EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT; EDMD2

5FSHD1

Facioscapulohumeral muscular dystrophy 1

5LGMDD1

MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1; LGMDD1

5LGMDR1

MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1; LGMDR1

5LGMDR5

MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5; LGMDR5

5MDDGC14

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14; MDDGC14

5MDDGC2

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2; MDDGC2

5MDDGC3

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3; MDDGC3

5MDDGC5

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MDDGC5

5POLG
Lim
5POPDC1

Muscular dystrophy

5UCMD1A

ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A; UCMD1A

4CD151
4CLCN1
4EXPH5
4FKBP10
4FTHL17
4TAB3
3CRYAB

Muscular dystrophy

Related phenotype searches

Intellectual disabilityGlobal developmental delaySpeech/language delayNeurodegenerationDevelopmental regressionSeizuresEpileptic encephalopathyStatus epilepticus

Data aggregated from HPO/Monarch, ClinVar, OMIM (phenotypes + clinical synopsis), Open Targets, PanelApp, Phen2Gene, and Gene2Phenotype. Click a gene to view full details.