Repeat Disorders
STR: OPML1GRCh37 Position: 81586142-81586159
GRCh38 Position: 79826386-79826403
Repeated Sequence: CCG
Normal Number of Repeats: < 16
Pathogenic Number of Repeats: = or > 35
NUTM2B-AS1 (NUTM2B antisense RNA 1)
EnsemblGeneIds (GRCh38): ENSG00000225484
EnsemblGeneIds (GRCh37): ENSG00000225484
NUTM2B-AS1 is in 0 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
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: LiteratureCreated: 31 Aug 2021, 12:15 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Oculopharyngeal myopathy with leukoencephalopathy 1 MIM#618637
Publications
Details
- Name
- OPML1
- Chromosome
- 10
- GRCh37 Coordinates
- 81586142-81586159
- GRCh38 Coordinates
- 79826386-79826403
- Repeated Sequence
- CCG
- Normal Number of Repeats: <
- 16
- Pathogenic Number of Repeats: = or >
- 35
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Oculopharyngeal myopathy with leukoencephalopathy 1 MIM#618637
- Tags
- Clinvar variants
- Variants in NUTM2B-AS1
- Penetrance
- None
- Publications
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag adult-onset tag was added to STR: OPML1.
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: opml1 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)STR: OPML1 was added STR: OPML1 was added to Repeat Disorders. Sources: Literature Mode of inheritance for STR: OPML1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: OPML1 were set to 31332380 Phenotypes for STR: OPML1 were set to Oculopharyngeal myopathy with leukoencephalopathy 1 MIM#618637 Review for STR: OPML1 was set to RED