OPML1 NUTM2B-AS1

Disease ID
OPML1
Gene ID
NUTM2B-AS1
Updated
Dec 9, 2024
v2.0.0

Disease

Name
Oculopharyngeal myopathy with leukoencephalopathy 1
Inheritance
Autosomal dominant
Description
Oculopharyngodistal myopathy and white matter abnormalities1 ; Ptosis, ophthalmoplegia, dysphagia, dysarthria2 .
Prevalence
Rare, found in individuals of East Asian ancestry1 .
Age of OnsetYears15  40
Age of Onset Details
15-40 (only characterized in one family)3 .

Locus

Details
Mechanism
GoF?
Year
20193
Location in Gene
Exon 1 (noncoding)
Gene Strand

Alleles

Ref. Motif
GGC
Pathogenic (ref.)
GGC
Pathogenic (gene)
CGG
BenignPathogenicUnits3  16161  700

gnomAD

Pathogenic Genotype (%)Admixed AmericanAfrican/African AmericanAmishAshkenazi JewishEuropean (non Finnish)FinnishMiddle EasternSouth AsianEast AsianOthers01234567NUTM2B-AS1

Pathogenic Genotype (%): % of individuals predicted to be affected based on their genotype

References

Direct supporting references for info on this page.

1
The Lancet. Neurology · 2024-07-01
pmid:38876750
2
Repeat expansion disorders.
Practical neurology · 2024-09-30
pmid:39349043
3
Nature genetics · 2019-07-22
pmid:31332380
4
Journal of genetics and genomics = Yi chuan xue bao · 2023-12-29
pmid:38159879
5
Journal of medical genetics · 2024-03-21
pmid:37923380
7
Japanese journal of radiology · 2022-09-28
pmid:36169768

Additional Literature

Additional literature related to this locus.

Raw PubMed search results
(All PubMed results returned by searching for this gene, tandem repeats, and disease, in medline format)

CGG/CCG Repeat Expansions in
Neurology. Genetics · 2024-07-08
pmid:39308795
Annals of neurology · 2022-03-08
pmid:35152460