Genes associated with “muscular dystrophy”

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

43 genes
1
DMD →

dystrophin

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

Muscular dystrophy

Frequency
-
P/LP Variants
140
OT Score
0.89
2
DYSF →

dysferlin

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

Muscular dystrophy

Frequency
-
P/LP Variants
39
OT Score
0.88
3
LAMA2 →

laminin subunit alpha 2

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

Muscular dystrophy

Frequency
-
P/LP Variants
5
OT Score
0.85
4
B3GALNT2 →

beta-1,3-N-acetylgalactosaminyltransferase 2

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

Muscular dystrophy

Frequency
-
P/LP Variants
2
OT Score
0.85
5
TRAPPC11 →

trafficking protein particle complex subunit 11

47
score
ClinGen: DefinitivePanel: Green ↑GTR ↑

Limb-girdle muscular dystrophy

Frequency
100%
n=8
P/LP Variants
1
OT Score
0.82
6
CAPN3 →

calpain 3

46
score
ClinGen: DefinitiveP2G #19GTR ↑

Muscular dystrophy

Frequency
-
P/LP Variants
15
OT Score
0.87
7
POMGNT1 →

protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)

45
score
ClinGen: DefinitivePanel: Green ↑P2G #14GTR ↑

Muscular dystrophy

Frequency
100%
n=20
P/LP Variants
10
OT Score
0.87
8
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
9
POMT1 →

protein O-mannosyltransferase 1

45
score
ClinGen: DefinitivePanel: Green ↑P2G #6GTR ↑

Muscular dystrophy

Frequency
100%
n=20
P/LP Variants
4
OT Score
0.87
45SGCG
Def

Muscular dystrophy

45PLEC
DefP:G

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

38FKRP
DefP:G#16

Muscular dystrophy

37COL12A1
P:G

Muscular dystrophy

37POMT2
DefP:G#7

Muscular dystrophy

36SYNE1
DefP:G

Muscular dystrophy

36COL6A1
DefP:G#11

Muscular dystrophy

35POMGNT2
DefP:G#17

Muscular dystrophy

35DAG1
DefP:G

Muscular dystrophy

35TCAP
DefP:A

Muscular dystrophy

33CRPPA
Def

Muscular dystrophy

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

31COL6A2
DefP:G#15

collagen type VI alpha 2 chain

31DNAJB6
Def

Muscular dystrophy

26DPM3
ModP:G

Limb-girdle muscular dystrophy

25SELENON
DefP:G

Muscular dystrophy

24POGLUT1
DefP:G

Limb-girdle muscular dystrophy

24DPM2
ModP:G

dolichyl-phosphate mannosyltransferase subunit 2, regulatory

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

26 genes
19MYH7
DefSF

myosin heavy chain 7

17RXYLT1
Def

ribitol xylosyltransferase 1

16FLNC
DefSF

filamin C

15NR0B1
#3

Muscular dystrophy

15CRYAB

Muscular dystrophy

15TUBB3
Def

tubulin beta 3 class III

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

13LGMDR12

MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12; LGMDR12

13MDCMC

MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE; MDCMC

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

13MDDGC4

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4; MDDGC4

12CAVIN1
DefP:G

Muscular dystrophy

11BET1
P:G

Muscular dystrophy

11DST
Def
10RYR1
DefSFP:R#4

Muscular dystrophy

10SYNE2
P:R

Muscular dystrophy

10TSPAN1
10DPM1
DefP:A

Muscular dystrophy

10ITGA7
P:G#13

Muscular dystrophy

9TRIP4

Muscular dystrophy

9IL1RAPL1
Def
8TMEM43
DefSFP:R

Muscular dystrophy

Possible

18 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

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

5MDDGC9

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9; MDDGC9

5UCMD1A

ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A; UCMD1A

4ASTN2
4CHKB-CPT1B
4KRT14
4TGM5

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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.