Details of Disease

General Information of Disease (ID: DISG2M6B)

Disease Name Coffin-Siris syndrome 8
Synonyms COFFIN-SIRIS SYNDROME 8; CSS8; SMARCC2-related BAFopathy
Definition Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCC2 gene.|Editor note: Fix placement after https://github.com/monarch-initiative/mondo/issues/1466
Disease Hierarchy
DIS8L03H: Coffin-Siris syndrome
DISQTWXD: BAFopathy
DISG2M6B: Coffin-Siris syndrome 8
Disease Identifiers
MONDO ID
MONDO_0032702
UMLS CUI
C5193054
OMIM ID
618362
MedGen ID
1679527

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
SMARCC2 OTC5SNMZ Definitive Autosomal dominant [1]
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References

1 Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay. Am J Hum Genet. 2019 Jan 3;104(1):164-178. doi: 10.1016/j.ajhg.2018.11.007. Epub 2018 Dec 20.