Genes associated with “OPDM1”

Diagnostic yield calculator →

52 genes foundOpen Targets: oculopharyngodistal myopathy 1

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

LDL receptor related protein 12

21

score

ClinGen: ModerateGTR ↑

Amyotrophic lateral sclerosis 28

Frequency

-

P/LP Variants

1

OT Score

0.45

Consider

4 genes

Score

Gene

Evidence

Freq

P/LP

OT

Description

OCULOPHARYNGODISTAL MYOPATHY 1; OPDM1

13

-

-

-

OCULOPHARYNGODISTAL MYOPATHY 1; OPDM1

Def

sodium voltage-gated channel alpha subunit 8

12

-

-

0.06

sodium voltage-gated channel alpha subunit 8

Def

dystrophin

10

DMDDef

-

-

0.07

dystrophin

Def

myotubularin 1

10

-

-

0.05

myotubularin 1

Possible

29 genes — click to expand

Score

Gene

Evidence

Freq

P/LP

OT

Description

DefSF

lamin A/C

8

LMNADefSF

-

-

0.06

lamin A/C

Def

LARGE xylosyl- and glucuronyltransferase 1

8

-

-

0.06

LARGE xylosyl- and glucuronyltransferase 1

Def

prosaposin

8

-

-

0.05

prosaposin

Def

dystonin

8

DSTDef

-

-

0.05

dystonin

Def

spectrin beta, non-erythrocytic 4

8

-

-

0.05

spectrin beta, non-erythrocytic 4

Def

methyl-CpG binding protein 2

6

-

-

0.06

methyl-CpG binding protein 2

Def

chromodomain helicase DNA binding protein 7

6

-

-

0.05

chromodomain helicase DNA binding protein 7

DefSF

alpha glucosidase

4

GAADefSF

-

-

0.06

alpha glucosidase

DefSF

desmin

4

DESDefSF

-

-

0.06

desmin

Def

laminin subunit alpha 2

4

-

-

0.06

laminin subunit alpha 2

DefSF

ryanodine receptor 1

4

RYR1DefSF

-

-

0.06

ryanodine receptor 1

Def

sodium voltage-gated channel alpha subunit 4

4

-

-

0.06

sodium voltage-gated channel alpha subunit 4

Def

immunoglobulin mu DNA binding protein 2

4

-

-

0.06

immunoglobulin mu DNA binding protein 2

Def

sarcoglycan delta

4

-

-

0.05

sarcoglycan delta

Def

AFG3 like matrix AAA peptidase subunit 2

4

-

-

0.05

AFG3 like matrix AAA peptidase subunit 2

Def

fukutin related protein

4

-

-

0.05

fukutin related protein

Def

aspartoacylase

4

-

-

0.05

aspartoacylase

Def

ATPase plasma membrane Ca2+ transporting 2

4

-

-

0.05

ATPase plasma membrane Ca2+ transporting 2

Def

leiomodin 2

4

-

-

0.05

leiomodin 2

DefSF

myosin binding protein C3

4

-

-

0.05

myosin binding protein C3

Def

early growth response 2

4

-

-

0.05

early growth response 2

Def

galactosylceramidase

4

-

-

0.05

galactosylceramidase

Def

protein phosphatase 1 regulatory subunit 13 like

4

-

-

0.05

protein phosphatase 1 regulatory subunit 13 like

Def

reelin

4

-

-

0.05

reelin

Def

cysteine and glycine rich protein 3

4

-

-

0.05

cysteine and glycine rich protein 3

Def

cystatin B

4

-

-

0.05

cystatin B

Def

fibrillin 2

4

-

-

0.05

fibrillin 2

Def

NPC intracellular cholesterol transporter 1

4

-

-

0.05

NPC intracellular cholesterol transporter 1

Def

TIMP metallopeptidase inhibitor 3

4

-

-

0.05

TIMP metallopeptidase inhibitor 3

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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.