Genes associated with “muscular dystrophy”

Diagnostic yield calculator →
93 genes foundHPO: Muscular dystrophy3 PanelApp panels
Some sources returned errors (1)

openTargets: Error: OT search: 403

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

34 genes
1
49
score
ClinGen: DefinitivePanel: Green (2) ↑P2G #25GTR ↑

Muscular dystrophy

Frequency
-
P/LP Variants
173
OT Score
-
2
43
score
ClinGen: DefinitivePanel: Amber ↑P2G #1GTR ↑

Muscular dystrophy

Frequency
-
P/LP Variants
42
OT Score
-
3
39
score
ClinGen: DefinitivePanel: Green ↑P2G #9GTR ↑

Muscular dystrophy

Frequency
-
P/LP Variants
12
OT Score
-
4
36
score
ClinGen: DefinitivePanel: Green ↑GTR ↑

Limb-girdle muscular dystrophy

Frequency
100%
n=8
P/LP Variants
2
OT Score
-
5
34
score
ClinGen: DefinitivePanel: Green ↑P2G #35GTR ↑

Muscular dystrophy

Frequency
-
P/LP Variants
2
OT Score
-
6
33
score
ClinGen: DefinitivePanel: Green ↑P2G #48GTR ↑

Muscular dystrophy

Frequency
-
P/LP Variants
3
OT Score
-
7
32
score
ClinGen: DefinitiveP2G #19GTR ↑

Muscular dystrophy

Frequency
-
P/LP Variants
19
OT Score
-
8
32
score
ClinGen: DefinitiveP2G #33GTR ↑

Muscular dystrophy

Frequency
-
P/LP Variants
8
OT Score
-
9
32
score
ClinGen: DefinitivePanel: Green ↑P2G #6GTR ↑

Muscular dystrophy

Frequency
100%
n=20
P/LP Variants
5
OT Score
-
31POMGNT1
DefP:G#14

Muscular dystrophy

31LMNA
DefSFP:G#10

Muscular dystrophy

29POGLUT1
DefP:G

Limb-girdle muscular dystrophy

29SGCA
Def

Limb-girdle muscular dystrophy

29SGCB
Def

Muscular dystrophy

29SMCHD1
DefP:G×2

Scapulohumeral muscular dystrophy

29POMT2
DefP:G#7

Muscular dystrophy

27FKTN
DefP:G#5

Muscular dystrophy

27LARGE1
DefP:G

Muscular dystrophy

26ANO5
DefP:R#2

Muscular dystrophy

26TRIM32
Def

Muscular dystrophy

26COL6A1
DefP:G#11

Muscular dystrophy

24COL12A1
P:G

Muscular dystrophy

24FKRP
DefP:G#16

Muscular dystrophy

23SYNE1
DefP:G

Muscular dystrophy

23DNAJB6
Def

Muscular dystrophy

22COL6A3
DefP:G#12
22TCAP
DefP:A

Muscular dystrophy

22POMGNT2
DefP:G#17

Muscular dystrophy

21SELENON
DefP:G

Muscular dystrophy

21COL6A2
DefP:G#15
20HNRNPDL
Def#20

Limb-girdle muscular dystrophy

20SGCD
Def

Muscular dystrophy

20SNUPN
Str
20TNPO3
Def

Muscular dystrophy

Consider

33 genes
20B4GAT1
ModP:G

Muscular dystrophy

20CRPPA
Def

Limb-girdle muscular dystrophy

17JAG2
ModP:G

Muscular dystrophy

17TTN
DefSF

Muscular dystrophy

17GMPPB
DefP:G

Muscular dystrophy

15NR0B1
#3

Muscular dystrophy

15INPP5K
P:G
15ITGA7
P:G#13

Muscular dystrophy

13EBS5B

EPIDERMOLYSIS BULLOSA SIMPLEX 5B, WITH MUSCULAR DYSTROPHY; EBS5B

13MDDGA1

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

13MDDGA2

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2

13MDDGA5

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5

13MDDGA6

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6; MDDGA6

13MDDGB2

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2; MDDGB2

13MDDGB3

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 3; MDDGB3

13MDDGB4

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 4; MDDGB4

13MDDGC15

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15

13DPM3
ModP:G

Limb-girdle muscular dystrophy

12DAG1
DefP:G

Muscular dystrophy

12CAVIN1
DefP:G

Muscular dystrophy

11BET1
P:G

Muscular dystrophy

11DST
Def
11TOR1AIP1
Def

Muscular dystrophy

10RYR1
DefSFP:R#4

Muscular dystrophy

10SYNE2
P:R

Muscular dystrophy

10TSPAN1
10DPM1
DefP:A

Muscular dystrophy

10MYH7
DefSF
9TRIP4

Muscular dystrophy

9IL1RAPL1
Def
8PABPN1
P:R
8TMEM43
DefSFP:R

Muscular dystrophy

8KRT14

Possible

20 genes — click to expand
7TARDBP
Def
6BCL2L2-PABPN1
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

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
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.