1. Panels
  2. Limb-Girdle Muscular Dystrophy and Distal Myopathy
  3. OPDM1
Regions in panel
Prev Next

Limb-Girdle Muscular Dystrophy and Distal Myopathy

STR: OPDM1

Green List (high evidence)
Chromosome: 8
GRCh37 Position: 105601201-105601227
GRCh38 Position: 104588973-104588999
Repeated Sequence: CGG
Normal Number of Repeats: < 45
Pathogenic Number of Repeats: = or > 85

LRP12 (LDL receptor related protein 12)
EnsemblGeneIds (GRCh38): ENSG00000147650
EnsemblGeneIds (GRCh37): ENSG00000147650
LRP12 is in 0 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

NM_013437.5:c.-102CGG[X]
RNA-mediated toxicity is thought to be the mechanism of disease. Sixty-five Japanese patients with oculopharyngodistal myopathy (OPDM) from 59 families with CGG repeat expansions in LRP12. This represents the most common OPDM subtype among all patients in Japan with genetically diagnosed OPDM.
Normal: 13 to 45 repeats.
Pathogenic: 85 to 289 repeats.
Sources: Expert list
Created: 7 Jun 2023, 5:46 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Oculopharyngodistal myopathy 1 MIM#164310

Publications

Clinically Relevant

Interruptions in the repeated sequence are reported as part of standard diagnostic practise

Created: 7 Jun 2023, 5:46 a.m.

Panel version: 1.15

Details

Name
OPDM1
Chromosome
8
GRCh37 Coordinates
105601201-105601227
GRCh38 Coordinates
104588973-104588999
Repeated Sequence
CGG
Normal Number of Repeats: <
45
Pathogenic Number of Repeats: = or >
85
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Oculopharyngodistal myopathy 1 MIM#164310
Clinvar variants
Variants in LRP12
Penetrance
None
Publications

History Filter Activity

7 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: opdm1 has been classified as Green List (High Evidence).

7 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: opdm1 has been classified as Green List (High Evidence).

7 Jun 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

STR: OPDM1 was added STR: OPDM1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Expert list Mode of inheritance for STR: OPDM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: OPDM1 were set to 31332380; 34047774 Phenotypes for STR: OPDM1 were set to Oculopharyngodistal myopathy 1 MIM#164310 Review for STR: OPDM1 was set to GREEN STR: OPDM1 was marked as clinically relevant