Details of Disease | DrugMAP

General Information of Disease (ID: DISE1WFL)

Disease Name	Baraitser-winter syndrome 2
Synonyms	Baraitser-WINTER syndrome 2; BRWS2; Baraitser-Winter syndrome type 2; ACTG1 Baraitser-Winter cerebrofrontofacial syndrome; Baraitser-winter syndrome 2; Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTG1
Definition	Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTG1 gene.
Disease Hierarchy	DISN13U9: Baraitser-Winter cerebrofrontofacial syndrome DISE1WFL: Baraitser-winter syndrome 2
Disease Identifiers	MONDO ID MONDO_0013812 UMLS CUI C3281235 OMIM ID 614583 MedGen ID 482865

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ACTG1	TTGAZF9	Definitive	Autosomal dominant	[1]
ACTG1	TTGAZF9	Definitive	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACTG1	OTH4V7VQ	Definitive	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.
2	Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. Am J Med Genet A. 2016 Oct;170(10):2644-51. doi: 10.1002/ajmg.a.37771. Epub 2016 May 30.