Genes associated with “OPDM1”

36 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

3 genes

Score

Gene

Evidence

Freq

P/LP

OT

Description

OCULOPHARYNGODISTAL MYOPATHY 1; OPDM1

13

-

-

-

OCULOPHARYNGODISTAL MYOPATHY 1; OPDM1

Def

myotubularin 1

10

-

-

0.05

myotubularin 1

Def

dystrophin

10

DMDDef

-

-

0.04

dystrophin

Possible

18 genes — click to expand

Score

Gene

Evidence

Freq

P/LP

OT

Description

DefSF

lamin A/C

8

LMNADefSF

-

-

0.05

lamin A/C

Def

collagen type VI alpha 1 chain

7

-

-

0.03

collagen type VI alpha 1 chain

Def

dynamin 2

7

-

-

0.03

dynamin 2

Def

LARGE xylosyl- and glucuronyltransferase 1

7

-

-

0.03

LARGE xylosyl- and glucuronyltransferase 1

Def

fragile X messenger ribonucleoprotein 1

5

-

-

0.00

fragile X messenger ribonucleoprotein 1

DefSF

desmin

4

DESDefSF

-

-

0.05

desmin

DefSF

ryanodine receptor 1

4

RYR1DefSF

-

-

0.05

ryanodine receptor 1

DefSF

alpha glucosidase

4

GAADefSF

-

-

0.04

alpha glucosidase

Def

sodium voltage-gated channel alpha subunit 4

4

-

-

0.04

sodium voltage-gated channel alpha subunit 4

Def

cofilin 2

4

-

-

0.03

cofilin 2

Def

immunoglobulin mu DNA binding protein 2

4

-

-

0.03

immunoglobulin mu DNA binding protein 2

Def

laminin subunit alpha 2

4

-

-

0.03

laminin subunit alpha 2

Def

sarcoglycan gamma

3

-

-

0.03

sarcoglycan gamma

Def

leiomodin 2

3

-

-

0.03

leiomodin 2

Def

EPM2A glucan phosphatase, laforin

3

-

-

0.03

EPM2A glucan phosphatase, laforin

Def

GDP-mannose pyrophosphorylase A

3

-

-

0.03

GDP-mannose pyrophosphorylase A

Def

valosin containing protein

3

VCPDef

-

-

0.03

valosin containing protein

Def

twinkle mtDNA helicase

3

-

-

0.00

twinkle mtDNA helicase

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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.