Baraitser-winter syndrome 2
MONDO:0013812Mondo
Findings
No curated finding names Baraitser-winter syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTG1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013812), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ACTG1HGNC:144
- Definitive · ClinGen · Autosomal dominant · 2019
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
3 names
Resolves to: Baraitser-winter syndrome 2
- Also called
- ACTG1 Baraitser-Winter cerebrofrontofacial syndromeBaraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTG1Baraitser-Winter syndrome type 2