Details of Disease

General Information of Disease (ID: DIS0B8FY)

• Disease Name: Myopathy caused by variation in POMGNT1
• Synonyms: POMGNT1-related myopathy; POMGNT1 myopathy; myopathy caused by mutation in POMGNT1
• Definition: Any myopathy in which the cause of the disease is a variation in the POMGNT1 gene.|This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'metabolic disease' (MONDO:0005066) ontology branch (https://orcid.org/0000-0002-1780-5230)
• Disease Hierarchy:
  DIS2BIP8: Congenital nervous system disorder
  DISD715V: Hereditary neurological disease
  DISU0K94: Hereditary skeletal muscle disorder
  DISOWG27: Myopathy
  DISI1EG0: Disorder of protein O-glycosylation
  DIS0B8FY: Myopathy caused by variation in POMGNT1

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
POMGNT1	OTBNOUZC	Strong	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.