Genes associated with “EDMD2”

54 genes foundOpen Targets: autosomal dominant Emery-Dreifuss muscular dystrophy140 ClinVar P/LP variants
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

1 gene
1
LMNA →

lamin A/C

34
score
ClinGen: DefinitiveACMG SFGTR ↑

Cardiomyopathy, dilated, 1A

Frequency
-
P/LP Variants
138
OT Score
0.86

Consider

7 genes
19TMEM43
DefSF

transmembrane protein 43

15SYNE1
Def

spectrin repeat containing nuclear envelope protein 1

13EDMD2

EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT; EDMD2

11RYR2
DefSF

ryanodine receptor 2

10DMD
Def

dystrophin

10MTM1
Def

myotubularin 1

8SYNE2

spectrin repeat containing nuclear envelope protein 2

Possible

32 genes — click to expand
8DNM2
Def

dynamin 2

7ESR1

estrogen receptor 1

6TBX5
Def

T-box transcription factor 5

6TBX3
Def

T-box transcription factor 3

5DOK7
Def

Fetal akinesia deformation sequence 3

4DES
DefSF

desmin

4DYSF
Def

dysferlin

4SGCG
Def

sarcoglycan gamma

4RYR1
DefSF

ryanodine receptor 1

4SGCA
Def

sarcoglycan alpha

4CAPN3
Def

calpain 3

4GAA
DefSF

alpha glucosidase

4LAMA2
Def

laminin subunit alpha 2

4SCN4A
Def

sodium voltage-gated channel alpha subunit 4

4CAV3
Def

caveolin 3

4CASQ2
DefSF

calsequestrin 2

4SGCB
Def

sarcoglycan beta

4SGCD
Def

sarcoglycan delta

4SCN5A
DefSF

sodium voltage-gated channel alpha subunit 5

4TTN
DefSF

titin

4NKX2-5
Def

NK2 homeobox 5

4SELENON
Def

selenoprotein N

4LMOD2
Def

leiomodin 2

4RBM20
DefSF

RNA binding motif protein 20

4IGHMBP2
Def

immunoglobulin mu DNA binding protein 2

4COL6A3
Def

collagen type VI alpha 3 chain

4KLHL40
Def

kelch like family member 40

4LARGE1
Def

LARGE xylosyl- and glucuronyltransferase 1

4TNNT1
Def

troponin T1, slow skeletal type

4LMOD3
Def

leiomodin 3

4NEB
Def

nebulin

4ZMPSTE24
Def

zinc metallopeptidase STE24

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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.