Genes associated with “muscular dystrophy”

Diagnostic yield calculator →
93 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
159
OT Score
0.89
2
DYSF →

dysferlin

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

Muscular dystrophy

Frequency
-
P/LP Variants
41
OT Score
0.88
3
LAMA2 →

laminin subunit alpha 2

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

Muscular dystrophy

Frequency
-
P/LP Variants
12
OT Score
0.86
4
TRAPPC11 →

trafficking protein particle complex subunit 11

49
score
ClinGen: DefinitivePanel: Green ↑GTR ↑

Limb-girdle muscular dystrophy

Frequency
100%
n=8
P/LP Variants
2
OT Score
0.81
5
B3GALNT2 →

beta-1,3-N-acetylgalactosaminyltransferase 2

48
score
ClinGen: DefinitivePanel: Green ↑P2G #35GTR ↑

Muscular dystrophy

Frequency
-
P/LP Variants
2
OT Score
0.86
6
PLEC →

plectin

46
score
ClinGen: DefinitivePanel: Green ↑P2G #48GTR ↑

Muscular dystrophy

Frequency
-
P/LP Variants
3
OT Score
0.82
7
CAPN3 →

calpain 3

46
score
ClinGen: DefinitiveP2G #19GTR ↑

Muscular dystrophy

Frequency
-
P/LP Variants
17
OT Score
0.86
8
POMT1 →

protein O-mannosyltransferase 1

46
score
ClinGen: DefinitivePanel: Green ↑P2G #6GTR ↑

Muscular dystrophy

Frequency
100%
n=20
P/LP Variants
5
OT Score
0.87
9
SGCG →

sarcoglycan gamma

45
score
ClinGen: DefinitiveP2G #33GTR ↑

Muscular dystrophy

Frequency
-
P/LP Variants
7
OT Score
0.83
45JAG2
ModP:G

Muscular dystrophy

45POMGNT1
DefP:G#14

Muscular dystrophy

43SGCA
Def

Limb-girdle muscular dystrophy

43SGCB
Def

Muscular dystrophy

43LMNA
DefSFP:G#10

Muscular dystrophy

42SMCHD1
DefP:G×2

Scapulohumeral muscular dystrophy

41FKTN
DefP:G#5

Muscular dystrophy

41LARGE1
DefP:G

Muscular dystrophy

41ANO5
DefP:R#2

Muscular dystrophy

39TRIM32
Def

Muscular dystrophy

38COL6A1
DefP:G#11

Muscular dystrophy

38FKRP
DefP:G#16

Muscular dystrophy

37COL12A1
P:G

Muscular dystrophy

37POMT2
DefP:G#7

Muscular dystrophy

36SYNE1
DefP:G

Muscular dystrophy

36DNAJB6
Def

Muscular dystrophy

35POMGNT2
DefP:G#17

Muscular dystrophy

34TCAP
DefP:A

Muscular dystrophy

33CRPPA
Def

Limb-girdle muscular dystrophy

33COL6A2
DefP:G#15

collagen type VI alpha 2 chain

33B4GAT1
ModP:G

Muscular dystrophy

31SGCD
Def

Muscular dystrophy

31GMPPB
DefP:G

Muscular dystrophy

31TTN
DefSF

Muscular dystrophy

31COL6A3
DefP:G#12

collagen type VI alpha 3 chain

30SELENON
DefP:G

Muscular dystrophy

27ITGA7
P:G#13

Muscular dystrophy

26DAG1
DefP:G

Muscular dystrophy

26DPM3
ModP:G

Limb-girdle muscular dystrophy

24POGLUT1
DefP:G

Limb-girdle muscular dystrophy

24DPM2
ModP:G

dolichyl-phosphate mannosyltransferase subunit 2, regulatory

24MYH7
DefSF

myosin heavy chain 7

23TOR1AIP1
Def

Muscular dystrophy

21FHL1
P:G

four and a half LIM domains 1

20HNRNPDL
Def#20

Limb-girdle muscular dystrophy

20TNPO3
Def

Muscular dystrophy

Consider

23 genes
17RXYLT1
Def

ribitol xylosyltransferase 1

16FLNC
DefSF

filamin C

15NR0B1
#3

Muscular dystrophy

15TUBB3
Def

tubulin beta 3 class III

14LDB3
Str

LIM domain binding 3

13EBS5B

EPIDERMOLYSIS BULLOSA SIMPLEX 5B, WITH MUSCULAR DYSTROPHY; EBS5B

13MDCMC

MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE; MDCMC

13MDDGA1

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

13MDDGA11

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11

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

13MMD1

MIYOSHI MUSCULAR DYSTROPHY 1; MMD1

12DST
Def
12CAVIN1
DefP:G

Muscular dystrophy

11BET1
P:G

Muscular dystrophy

10RYR1
DefSFP:R#4

Muscular dystrophy

10SYNE2
P:R

Muscular dystrophy

10TSPAN1
10DPM1
DefP:A

Muscular dystrophy

9TRIP4

Muscular dystrophy

9IL1RAPL1
Def
8TMEM43
DefSFP:R

Muscular dystrophy

8KRT14

Possible

19 genes — click to expand
7TARDBP
Def
6CAV3
Def#18

Muscular dystrophy

6LIPE
Def

Muscular dystrophy

6BAG3
DefSF

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

5UCMD1A

ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A; UCMD1A

4ASTN2
4CHKB-CPT1B
4EXPH5
4TGM5
3CRYAB

Muscular dystrophy

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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.