SMURF1

SMAD specific E3 ubiquitin protein ligase 1
OMIM: 605568, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Red SMURF1 in Rare syndromic craniosynostosis or isolated multisuture synostosis

Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 5.1
Latest signed off version: v5.0 (1 May 2024)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • craniosynostosis, MONDO:0015469