Details of Disease | DrugMAP

General Information of Disease (ID: DIS9UTNR)

Disease Name	SMARCC1-associated developmental dysgenesis syndrome
Synonyms	SMARCC1-related BAFopathy
Definition	Variants in SMARCC1 cause a novel human syndrome characterized by developmental delay, cerebral ventriculomegaly and aqueductal stenosis, and other associated structural brain and cardiac defects.
Disease Hierarchy	DISQTWXD: BAFopathy DIS9UTNR: SMARCC1-associated developmental dysgenesis syndrome

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
SMARCC1	OTUOMBE7	Definitive	Autosomal dominant	[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.