Limb-Girdle Muscular Dystrophy and Distal Myopathy

STR: OPDM2

Green List (high evidence)

Chromosome: 19
GRCh37 Position: 14606854-14606886
GRCh38 Position: 14496042-14496074
Repeated Sequence: CGG
Normal Number of Repeats: < or = 32
Pathogenic Number of Repeats: = or > 70

GIPC1 (GIPC PDZ domain containing family member 1)
EnsemblGeneIds (GRCh38): ENSG00000123159
EnsemblGeneIds (GRCh37): ENSG00000123159
OMIM: 605072, Gene2Phenotype
GIPC1 is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

NM_005716.4:c.-211GGC[X]
>15 Chinese families/probands with a heterozygous trinucleotide repeat expansion (CGG(n)) in 5'UTR exon 1 of the GIPC1 gene. The expansion was found by a combination of linkage analysis, whole-exome sequencing, long-range sequencing, and PCR analysis, and segregated with the disorder in the family. Repeat lengths in the patients ranged from 70 to 138. Normal repeat lengths ranged from 12 to 32.
Sources: Expert list
Created: 7 Jun 2023, 5:43 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Oculopharyngodistal myopathy 2 MIM#618940

Publications

Clinically Relevant

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

Details

Name
OPDM2
Chromosome
19
GRCh37 Coordinates
14606854-14606886
GRCh38 Coordinates
14496042-14496074
Repeated Sequence
CGG
Normal Number of Repeats: < or =
32
Pathogenic Number of Repeats: = or >
70
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Oculopharyngodistal myopathy 2 MIM#618940
OMIM
605072
Clinvar variants
Variants in GIPC1
Penetrance
None
Publications

History Filter Activity

7 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: opdm2 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: opdm2 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: OPDM2 was added STR: OPDM2 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Expert list Mode of inheritance for STR: OPDM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: OPDM2 were set to 32413282; 33374016 Phenotypes for STR: OPDM2 were set to Oculopharyngodistal myopathy 2 MIM#618940 Review for STR: OPDM2 was set to GREEN STR: OPDM2 was marked as clinically relevant