Genes associated with “EDMD2”

Diagnostic yield calculator →
54 genes foundOpen Targets: autosomal dominant Emery-Dreifuss muscular dystrophy
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
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Strong Candidates

1 gene
1
LMNA →

lamin A/C

34
score
ClinGen: DefinitiveACMG SFGTR ↑

Cardiomyopathy, dilated, 1A

Frequency
-
P/LP Variants
144
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

13TCOF1
Def

treacle ribosome biogenesis factor 1

10DMD
Def

dystrophin

8DNM2
Def

dynamin 2

8SYNE2

spectrin repeat containing nuclear envelope protein 2

Possible

29 genes — click to expand
7ESR1

estrogen receptor 1

6GATA4
Def

GATA binding protein 4

5DOK7
Def

Fetal akinesia deformation sequence 3

4SCN4A
Def

sodium voltage-gated channel alpha subunit 4

4DES
DefSF

desmin

4GAA
DefSF

alpha glucosidase

4DYSF
Def

dysferlin

4TNNT1
Def

troponin T1, slow skeletal type

4TTN
DefSF

titin

4LAMA2
Def

laminin subunit alpha 2

4NKX2-5
Def

NK2 homeobox 5

4RYR1
DefSF

ryanodine receptor 1

4CAV3
Def

caveolin 3

4RYR2
DefSF

ryanodine receptor 2

4COL6A1
Def

collagen type VI alpha 1 chain

4COL6A3
Def

collagen type VI alpha 3 chain

4FKRP
Def

fukutin related protein

4KLHL40
Def

kelch like family member 40

4SGCG
Def

sarcoglycan gamma

4SGCD
Def

sarcoglycan delta

4MYBPC3
DefSF

myosin binding protein C3

4COMP
Def

cartilage oligomeric matrix protein

4NEB
Def

nebulin

4ANO5
Def

anoctamin 5

4SCN5A
DefSF

sodium voltage-gated channel alpha subunit 5

4SGCA
Def

sarcoglycan alpha

4CSRP3
Def

cysteine and glycine rich protein 3

3MYLK3
Mod

myosin light chain kinase 3

3CACNA1S
ModSF

calcium voltage-gated channel subunit alpha1 S

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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.