Limb-Girdle Muscular Dystrophy and Distal Myopathy

STR: NUTM2B-AS1_OPDM_CCG

Green List (high evidence)

Chromosome: 10
GRCh37 Position: 81586142-81586159
GRCh38 Position: 79826386-79826403
Repeated Sequence: CCG
Normal Number of Repeats: < or = 16
Pathogenic Number of Repeats: = or > 35

NUTM2B-AS1 (NUTM2B antisense RNA 1)
EnsemblGeneIds (GRCh38): ENSG00000225484
EnsemblGeneIds (GRCh37): ENSG00000225484
NUTM2B-AS1 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 10 new families/probands have been reported with the repeat expansion. These individuals had an OPDM phenotype, mostly without white matter changes.
NR_120611.1:n.192CCG[X]
4 affected members of a single Japanese family with oculopharyngeal myopathy with leukoencephalopathy, with a heterozygous trinucleotide (CCG)n repeat expansion in the bidirectionally transcribed long noncoding RNA LOC642361 gene (in the CGG direction). RNA toxicity is postulated as the mechanism of disease. CGG repeats in controls ranged from 3 to 16. Repeats in affected family members ranged from 35-60.
Sources: Literature
Created: 26 Apr 2025, 11:55 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Oculopharyngodistal myopathy MONDO:0025193

Publications

Clinically Relevant

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

Details

Name
NUTM2B-AS1_OPDM_CCG
Chromosome
10
GRCh37 Coordinates
81586142-81586159
GRCh38 Coordinates
79826386-79826403
Repeated Sequence
CCG
Normal Number of Repeats: < or =
16
Pathogenic Number of Repeats: = or >
35
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Oculopharyngodistal myopathy MONDO:0025193
Clinvar variants
Variants in NUTM2B-AS1
Penetrance
None
Publications

History Filter Activity

26 Apr 2025, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: nutm2b-as1_opdm_ccg has been classified as Green List (High Evidence).

26 Apr 2025, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: nutm2b-as1_opdm_ccg has been classified as Green List (High Evidence).

26 Apr 2025, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

STR: NUTM2B-AS1_OPDM_CCG was added STR: NUTM2B-AS1_OPDM_CCG was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature Mode of inheritance for STR: NUTM2B-AS1_OPDM_CCG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: NUTM2B-AS1_OPDM_CCG were set to 31332380; 37923380; 39308795; 38159879 Phenotypes for STR: NUTM2B-AS1_OPDM_CCG were set to Oculopharyngodistal myopathy MONDO:0025193 Review for STR: NUTM2B-AS1_OPDM_CCG was set to GREEN STR: NUTM2B-AS1_OPDM_CCG was marked as clinically relevant