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 2: Musculoskeletal
Version 6.4
Latest signed off version: v6.0 (30 Apr 2025)

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