Details of Disease

General Information of Disease (ID: DIS06KE9)

Disease Name TCF12-related craniosynostosis
Synonyms CRS3; craniosynostosis caused by mutation in TCF12; TCF12 craniosynostosis; craniosynostosis type 3; TCF12-related craniosynostosis; craniosynostosis 3
Definition Any syndromic craniosynostosis in which the cause of the disease is a mutation in the TCF12 gene.
Disease Hierarchy
DISEUVBK: Syndromic craniosynostosis
DIS6J405: Craniosynostosis
DIS06KE9: TCF12-related craniosynostosis
Disease Identifiers
MONDO ID
MONDO_0014128
UMLS CUI
C3715051
OMIM ID
615314
MedGen ID
811568

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
TCF12 OTZVONNU 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.