Details of Disease | DrugMAP

General Information of Disease (ID: DISSOP0C)

Disease Name	ACTL6A-related BAFopathy
Definition	Any BAFopathy in which the cause of the disease is a mutation in the ACTL6A gene.
Disease Hierarchy	DISQTWXD: BAFopathy DISSOP0C: ACTL6A-related BAFopathy

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
ACTL6A	OT0EC5BQ	Moderate	Autosomal dominant	[1]
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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.