Limb-Girdle Muscular Dystrophy and Distal Myopathy
STR: OPDM2GRCh37 Position: 14606854-14606886
GRCh38 Position: 14496042-14496074
Repeated Sequence: CGG
Normal Number of Repeats: < 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 0 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
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 listCreated: 7 Jun 2023, 5:43 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Oculopharyngodistal myopathy 2 MIM#618940
Publications
Clinically RelevantInterruptions 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: <
- 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: opdm2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: opdm2 has been classified as Green List (High Evidence).
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