Details of Disease | DrugMAP

General Information of Disease (ID: DISE9GAB)

Disease Name	Myopathy caused by variation in POMGNT2
Synonyms	POMGNT2-related myopathy; myopathy caused by mutation in POMGNT2; POMGNT2 myopathy
Definition	Any myopathy in which the cause of the disease is a variation in the POMGNT2 gene.
Disease Hierarchy	DISU0K94: Hereditary skeletal muscle disorder DISOWG27: Myopathy DISI1EG0: Disorder of protein O-glycosylation DISE9GAB: Myopathy caused by variation in POMGNT2

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
POMGNT2	OT0S9Z0J	Definitive	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.